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TTPA Gene

protein-coding GIFtS: 52

GC08M059459

tocopherol (alpha) transfer protein
(Previous name: ataxia (Friedreich-like) with vitamin E deficiency )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AVED)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
tocopherol (alpha) transfer protein¹ ²		alpha-tocopherol transfer protein²
AVED² ⁵		alphaTTP²
TTP1² ⁵		tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)²
ataxia (Friedreich-like) with vitamin E deficiency¹		Alpha-TTP³
ATTP²		TPP1³
alpha-TTP²

External Ids:	HGNC: 12404¹	Entrez Gene: 7274²	Ensembl: ENSG00000137561⁷	UniProtKB: P49638³

Export aliases for TTPA gene to outside databases

Previous GC identifers: GC08M063337 GC08M063913 GC08M063695 GC08M064022 GC08M064134

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TTPA:

This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and

affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E

between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins.

Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis

pigmentosa. (provided by RefSeq)

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

Function: Binds alpha-tocopherol and enhances its transfer between separate membranes

Gene Wiki entry for TTPA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TTPA gene promoter:
         PPAR-gamma1   PPAR-gamma2   FOXD1   MEF-2A   FAC1   RSRFC4   Cart-1
         Other transcription factors

Search SABiosciences Chromatin IP Primers for TTPA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for TTPA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q12.3 Ensembl cytogenetic band: 8q12.3 HGNC cytogenetic band: 8q12.3

TTPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTPA gene location

GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M059459: view genomic region (about GC identifiers)

Start:	59,459,917 bp from pter
End:	59,486,481 bp from pter
Size:	26,565 bases
Orientation:	minus strand

1 alternative location:

Chr8- 63,961,112-63,998,612

RefSeq DNA sequence:

NC_000008.10 NT_008183.19

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638 (See protein sequence)

Recommended Name: Alpha-tocopherol transfer protein

Size: 278 amino acids; 31750 Da

Subcellular location: Cytoplasm

PDB structures from and Proteopedia :

1OIP (3D)

1OIZ (3D)

1R5L (3D)

Secondary accessions: Q71V64

Explore the universe of human proteins at neXtProt for TTPA: NX_P49638

REFSEQ proteins: NP_000361.1

ENSEMBL proteins:

ENSP00000260116

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for TTPA
	Novus Biologicals Proteins for TTPA
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005770	late endosome	IEA	--
GO:0005829	cytosol	IEA	--

About this table

TTPA for ontologies About GeneDecksing

Antibodies for TTPA:

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	Browse antibodies at Epitomics

Assays for TTPA:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TTPA
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TTPA for domains About GeneDecksing

4 InterPro domains/families:

IPR001071 CRAL-bd_toc_tran

IPR001251 CRAL-bd_TRIO_C

IPR011074 Sec14p-like_N

IPR008273 CRAL-bd_TRIO_N

Graphical View of Domain Structure for InterPro Entry P49638

ProtoNet protein and cluster: P49638

3 Blocks protein families:

IPB001071 Cellular retinaldehyde-binding protein signature

IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)

IPB008273 Cellular retinaldehyde-binding/triple function

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

Similarity: Contains 1 CRAL-TRIO domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

Function: Binds alpha-tocopherol and enhances its transfer between separate membranes

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for TTPA Sigma-Aldrich shRNA for TTPA
		OriGene 29mer shRNA kits in GFP-retroviral vector: TTPA OriGene shRNA RFP: TTPA OriGene basic RS shRNA: TTPA OriGene siRNA: TTPA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TTPA

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TTPA
		Search SABiosciences for Assays for microRNAs that regulate TTPA

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: TTPA OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TTPA OriGene untagged cDNA clones in CMV expression vector: TTPA Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for TTPA
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for TTPA

Genatlas biochemistry entry for TTPA:

alpha-tocopherol transfer protein

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	IEA	--
GO:0008431	vitamin E binding	IEA	--
GO:0019842	vitamin binding	--	--

About this table

TTPA for ontologies About GeneDecksing

Animal Models: 8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ttpa):

behavior/neurological	cardiovascular system	embryogenesis	homeostasis/metabolism	muscle
nervous system	reproductive system	vision/eye

TTPA for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

SABiosciences Custom Pathway-Focused PCR Arrays for TTPA

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TTPA

5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001890	placenta development	--	--
GO:0001892	embryonic placenta development	IEA	--
GO:0006629	lipid metabolic process	TAS	7887897
GO:0006810	transport	TAS	7887897
GO:0007584	response to nutrient	IEA	--

About this table

TTPA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

TTPA for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TTPA
10/13 Novoseek chemical compound relationships for TTPA gene (see all 13)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha tocopherol	92.5	321	20368946 (5), 14531858 (5), 20187127 (4), 9356467 (4) (see all 99)
tocopherol	91.1	56	18458085 (3), 15318806 (2), 15753136 (2), 15753158 (2) (see all 28)
vitamin-e	88.6	139	10082886 (3), 10727494 (3), 20368946 (3), 18458085 (3) (see all 57)
delta-tocopherol	75.3	1	16491383 (1)
alpha-tocopherol quinone	64.6	3	9801162 (2)
lipid	31.2	6	19458973 (1), 12767229 (1), 18458085 (1), 16430203 (1)
phosphatidylinositol	25.7	3	11226224 (1), 12767229 (1)
cholesterol	13.9	3	9356467 (1), 20387845 (1), 10540874 (1)
atp	0	1	17252538 (1)
oxygen	0	3	10867030 (1), 18511174 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for TTPA Sigma-Aldrich shRNA for TTPA
		OriGene 29mer shRNA kits in GFP-retroviral vector: TTPA OriGene shRNA RFP: TTPA OriGene basic RS shRNA: TTPA OriGene siRNA: TTPA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TTPA

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TTPA
		Search SABiosciences for Assays for microRNAs that regulate TTPA

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: TTPA OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TTPA OriGene untagged cDNA clones in CMV expression vector: TTPA Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for TTPA

Primers:		OriGene genome-wide validated SYBR primer pairs: TTPA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for TTPA: PPH09797A

REFSEQ mRNAs for TTPA gene:

NM_000370.3

Additional cDNA sequence:

BC041784.1 BC058000.1 D49488.1 U21938.1

2 DOTS entries:

DT.101976708 DT.204951

18 AceView cDNA sequences:

BX283648 BC058000 BM463341 D49488 NM_000370 BC041784 AW043604 AL119672

BG614543 BX101071 BG427807 H68464 U21938 BE971379 N56849 H68830

AA703331 BG400921

highest scoring ESTs for TTPA:

D49488 BC041784 BC058000 BG427807 U21938 AL119672 AU100411 AW043604 BG400921 BG614543

Unigene Cluster for TTPA:

Tocopherol (alpha) transfer protein

Hs.69049 [show with all ESTs]

Unigene Representative Sequence: NM_000370

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000260116(uc003xux.1) ENST00000521138

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

TTPA expression in normal and diseased human tissues

¹ / ² / ³

4 probe-sets matching TTPA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
34617_at²^{, 3}	U95-A	1	1.00	1.00	0.89	0.90	D49488	1.00	1.00	1.00	1
68907_at²^{, 3}	U95-E	1	0.69	1.00	0.91	1.32	AW043604	0.60	1.00	0.82	1
210614_at²^{, 3}	U133-A	1	0.91	1.00	--	--	U21938	0.80	1.00	0.91	1
210614_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

About this table

TTPA for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

TTPA gene electronic northern expression

About these images

CGAP SAGE TAG: TGTTCACAAA

SOURCE GeneReport for Unigene cluster: Hs.69049

Expression variation in blood from EXPOLDB for TTPA

Primers:		OriGene genome-wide validated SYBR primer pairs: TTPA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for TTPA: PPH09797A

SABiosciences Custom PCR Arrays for TTPA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TTPA gene from 5/8 species (see all 8)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TTPA¹	--	tocopherol (alpha) transfer protein	91(n) 93.84(a)	403627 XM_535088.2 XP_535088.2
chimpanzee (Pan troglodytes)	TTPA¹	--	tocopherol (alpha) transfer protein	99.16(n) 99.28(a)	472778 XM_528150.2 XP_528150.2
cow (Bos taurus)	TTPA¹	--	tocopherol (alpha) transfer protein	88.82(n) 91.77(a)	286813 XM_587081.3 XP_587081.3
rat (Rattus norvegicus)	Ttpa¹	--	tocopherol (alpha) transfer protein	85.73(n) 88.85(a)	25571 NM_013048.2 NP_037180.1
mouse (Mus musculus)	Ttpa^{1 , 5}	4 (7.76 cM)⁵	tocopherol (alpha) transfer protein^{1, 5}	86.57(n)¹ 89.21(a)¹	50500¹ NM_015767.2¹ NP_056582.1¹ AA789567⁵ AF218416⁵ (see all 14)

About this table Species with no ortholog for TTPA

ENSEMBL Gene Tree for TTPA (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for TTPA gene

RLBP1² TTPAL² CLVS2² CLVS1²

TTPA for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 8 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs2045224^1,2	C,F	63973988(+)	`ATCTGA/CAATAG`	1	--	int¹		5		MN	408
rs2352658^1,2	--	63977799(+)	`gggctC/Ggaatt`	1	--	int¹		0	--	--	--	--
rs4289804^1,2	C	63993047(+)	`aggccA/Gaggca`	1	--	int¹		0	--	--	--	--
rs4446729^1,2	C,F,A,H,	63983203(+)	`CTACAC/TGAGGC`	1	--	int¹		11		NS EA NA WA	500
rs4481586^1,2	--	63993291(+)	`AAAAAA/TAAATA`	1	--	int¹ trp³		0	--	--	--	--
rs4501570^1,2	C,F,A,H,	63976754(+)	`AATATG/ATTTTA`	1	--	int¹		10		MN NA EA WA	554
rs4587328^1,2	C,F,A,H,	63972718(+)	`AGTTAT/CGTTAT`	1	--	ut3¹ ese³		7		NA EA WA	306
rs4606052^1,2	C,F,A,H,	63976677(+)	`AGGTAT/CGAGGA`	1	--	int¹		18		NS EA NA MN WA	1210
rs4737626^1,2	C,F,	63974218(+)	`ATAAAA/GTTTAT`	1	--	int¹		1		EA	88
rs4739046^1,2	C,F,A,	63979488(+)	`CCAGGT/CGCAgg`	1	--	int¹		5		NS EA	506

About this table

HapMap Linkage Disequilibrium images for TTPA (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TTPA: --

QIAGEN SeqTarget long-range PCR primers for resequencing TTPA

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TTPA for disorders About GeneDecksing

OMIM: 600415 disorders: 277460

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

Defects in TTPA are the cause of ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]. AVED is an

autosomal recessive disease characterized by spinocerebellar degeneration. It causes ataxia and peripheral neuropathy

that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E

10/15 Novoseek disease relationships for TTPA gene (see all 15)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vitamin e deficiency	96.6	56	10082886 (3), 15300460 (2), 18458655 (2), 20368946 (2) (see all 34)
friedreich ataxia	78.3	8	10996881 (1), 9463307 (1), 12470185 (1), 17112370 (1) (see all 5)
abetalipoproteinemia	71.7	2	10082886 (1)
spinocerebellar ataxias	57.6	2	10082886 (1), 16491383 (1)
retinitis pigmentosa	56.3	10	9189046 (2), 11754917 (2), 10727494 (2), 8965888 (1) (see all 5)
protein deficiency	53.6	2	9645052 (1), 9931538 (1)
neurodegenerative diseases	44.2	9	12470185 (1), 15300460 (1), 17628170 (1), 10082886 (1) (see all 5)
apraxias	31.9	2	17112370 (1)
neurodegeneration	29.1	2	14642382 (1), 17628171 (1)
neurological disorders	29.1	3	15753133 (1), 20368946 (1), 16819822 (1)

About this table

GeneTests: TTPA

Ataxia with Vitamin E Deficiency

Human Gene Mutation Database (HGMD): TTPA
Human Genome Epidemiology (HuGE) Navigator: TTPA (53 documents)

Export disorders and mutations for TTPA gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/120 PubMed articles for TTPA gene, integrated from 7 sources (see all 120):
(articles sorted by number of sources associating them with TTPA)

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PubMed id 7887897)^{1, 2, 3, 7} Arita M.... Inoue K. (1995)
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. (PubMed id 7719340)^{1, 2, 3, 7} Ouahchi K.... Koenig M. (1995)
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. (PubMed id 8602747)^{1, 2, 7} Hentati A.... Siddique T. (1996)
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (PubMed id 7566022)^{1, 2, 7} Gotoda T.... Yamada N. (1995)
The molecular basis of vitamin E retention: structure of human alpha- tocopherol transfer protein. (PubMed id 12899840)^{1, 2, 7} Meier R.... Stocker A. (2003)
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. (PubMed id 15300460)^{1, 2, 7} Mariotti C.... Di Donato S. (2004)
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. (PubMed id 9463307)^{1, 2, 7} Cavalier L.... Koenig M. (1998)
Molecular determinants of heritable vitamin E deficiency. (PubMed id 15065857)^{1, 2, 7} Morley S.... Manor D. (2004)
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. (PubMed id 14657365)^{1, 2, 7} Min K.C.... Hendrickson W.A. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7274	HGNC: 12404	AceView: TTPA	Ensembl:ENSG00000137561	euGenes: HUgn7274
ECgene: TTPA	H-InvDB: TTPA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTPA

Intellectual Property for TTPA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

About This Section

Patent Information for TTPA gene:
Search GeneIP for patents involving TTPA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for TTPA		Browse antibodies at Sigma-Aldrich
	Super-pooled esiRNAs for TTPA		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for TTPA		Browse microRNA Mimics at Sigma-Aldrich
	"Your Favorite Gene" Pathways and Molecular Interaction Networks		Browse Nano Scale siRNA at Sigma-Aldrich
	Browse iPSC Reprogramming Factors at Sigma-Aldrich		Browse small molecules at Sigma-Aldrich
	Browse FLAG tag genes at Sigma-Aldrich		Browse ELISAs at Sigma-Aldrich
	Browse microRNA Target Validation Systems at Sigma-Aldrich		Browse CompoZr Knockout ZFN at Sigma-Aldrich
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	Antibodies		Cell Culture Products
	ELISAs		Flow Cytometry Kits
	Primer Pairs		Kinase Activity Assays/Reagents
	ELISpot Kits/Development Modules		TFB/Immunoprecipitation Assays
	Apoptosis Detection Kits/Reagents		Protease Activity Assays/Reagents
	DNA Damage/Repair Kits/Reagents		Multiplex/Array Assay Kits/Reagents
	Cell Selection/Detection Kits/Reagents		ELISA/Assay Development Kits/Reagents
	Phosphatase Activity Assays/Reagents		Recombinant/Natural Proteins

	Tagged/untagged cDNA clones
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	Fluorogenic Cell Assay Kits
	miRNA Primers for qPCR Assays
	3' UTR Clones for miRNA Target Studies
	miRNA Expression Plasmids

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TTPA
	SeqTarget long-range PCR primers for resequencing TTPA
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for TTPA
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TTPA

	GenScript Custom Purified and Recombinant Proteins Services for TTPA		GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for TTPA
	GenScript Custom Assay Services for TTPA		GenScript Custom Superior Antibodies Services for TTPA
	GenScript Custom overexpressing Cell Line Services for TTPA		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in TTPA promoter
	Search Chromatin IP Primers for TTPA
	RT² qPCR Primer Assay for TTPA
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	SABiosciences Custom PCR Arrays for TTPA

Search Tocris compounds for TTPA

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	Rabbit Monoclonal Antibody Platform
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	Proteins for TTPA

Browse antibodies at Epitomics

Browse ProSpec Recombinant Proteins

Browse ELISAs and CLIAs at Uscn

GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

TTPA gene at Home site.

hostname: genecards db genecards_305 index build: 81e solr: 1.4

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TTPA Gene

protein-coding GIFtS: 52

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Export list of displayed genes

TTPA Gene

protein-coding GIFtS: 52

Aliases & Descriptionsfor TTPA gene

Summariesfor TTPA gene

Genomic Viewsfor TTPA gene

Proteinsfor TTPA gene

Protein Domains/Familiesfor TTPA gene

Gene Functionfor TTPA gene

Pathways & Interactionsfor TTPA gene

Drugs & Compoundsfor TTPA gene

Transcriptsfor TTPA gene

Expression for TTPA gene

Orthologsfor TTPA gene

Paralogsfor TTPA gene

Genomic Variantsfor TTPA gene

Disorders & Mutationsfor TTPA gene

Medical Newsfor TTPA gene

Publicationsfor TTPA gene

External Searches for TTPA gene

Genome Databases showing TTPA gene

Other Databases showing TTPA gene

Specialized Databases showing TTPA gene

Intellectual Propertyfor TTPA gene

Productsfor TTPA gene

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Aliases &
Descriptions
for TTPA gene

Summaries
for TTPA gene

Genomic Views
for TTPA gene

Proteins
for TTPA gene

Protein Domains/
Families
for TTPA gene

Gene Function
for TTPA gene

Pathways & Interactions
for TTPA gene

Drugs & Compounds
for TTPA gene

Transcripts
for TTPA gene

Expression
for TTPA gene

Orthologs
for TTPA gene

Paralogs
for TTPA gene

Genomic Variants
for TTPA gene

Disorders & Mutations
for TTPA gene

Medical News
for TTPA gene

Publications
for TTPA gene

Intellectual Property
for TTPA gene

Products
for TTPA gene