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TTPA Gene

protein-coding GIFtS: 60
GCID: GC08M063961

Tocopherol (Alpha) Transfer Protein

(Previous name: ataxia (Friedreich-like) with vitamin E deficiency)
(Previous symbol: AVED)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Tocopherol (Alpha) Transfer Protein¹ ²		Alpha-Tocopherol Transfer Protein²
AVED¹ ² 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	OMIM: 600415⁵	UniProtKB: P49638³

ORGUL members:

Export aliases for TTPA gene to outside databases

Previous GC identifers: GC08M063337 GC08M063913 GC08M063695 GC08M064022 GC08M064134 GC08M059459

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTPA Gene:

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, Nov 2009)

GeneCards Summary for TTPA Gene:

TTPA (tocopherol (alpha) transfer protein) is a protein-coding gene. Diseases associated with TTPA include ataxia with vitamin e deficiency, and hereditary ataxia. GO annotations related to this gene include phosphatidylinositol-3,4-bisphosphate binding and transporter activity. An important paralog of this gene is TTPAL.

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

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

from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the

resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)

Gene Wiki entry for TTPA (Alpha-tocopherol transfer protein) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000008.11 NT_008183.20 NC_018919.2

Regulatory elements:

Regulatory transcription factor binding sites in the TTPA gene promoter:
LHX3b/Lhx3b FOXD1 MEF-2A PPAR-alpha FAC1 Cart-1 LHX3a/Lhx3a aMEF-2 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TTPA promoter sequence

Search Chromatin IP Primers for TTPA

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M063961: view genomic region (about GC identifiers)

Start:	63,961,112 bp from pter	End:	63,998,612 bp from pter
Size:	37,501 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638 (See protein sequence)

Recommended Name: Alpha-tocopherol transfer protein

Size: 278 amino acids; 31750 Da

Subunit: Monomer and homotetramer. Phosphatidylinol 4,5-bisphosphate binding induces the formation of

homotetramers. Phosphatidylinol 3,4-bisphosphate is less efficient in inducing tetramerization (By similarity)

3 PDB 3D structures from and Proteopedia for TTPA:

1OIP (3D)

1OIZ (3D)

1R5L (3D)

Secondary accessions: Q71V64

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

Explore proteomics data for TTPA at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See TTPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000361.1

ENSEMBL proteins:

ENSP00000260116

TTPA Human Recombinant Protein Products:

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TTPA Antibody Products:

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	LSBio Antibodies in human, mouse, rat for TTPA

TTPA Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR001071 CRAL-bd_toc_tran

IPR001251 CRAL-TRIO_dom

IPR011074 CRAL/TRIO_N_dom

Graphical View of Domain Structure for InterPro Entry P49638

ProtoNet protein and cluster: P49638

3 Blocks protein domains:

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

TTPA for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: TTPA_HUMAN, P49638

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

from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the

resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)

Genatlas biochemistry entry for TTPA:

alpha-tocopherol transfer protein

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	IEA	--
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	--
GO:0008431	vitamin E binding	ISS	--
GO:0019842	vitamin binding	--	--
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	ISS	--

TTPA for ontologies About GeneDecksing

Phenotypes:
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

Animal Models:
MGI mouse knock-out Ttpa^tm1Hsz for TTPA

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTPA

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TTPA

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTPA

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTPA

miRNA Products:		miRTarBase miRNAs that target TTPA: hsa-mir-215-5p (MIRT024457), hsa-mir-192-5p (MIRT026314)

		Block miRNA regulation of human, mouse, rat TTPA using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate TTPA (see all 21):
		hsa-miR-142-5p hsa-miR-30c hsa-miR-1178 hsa-miR-125a-5p hsa-miR-3660 hsa-miR-30d hsa-miR-340 hsa-miR-3133

		SwitchGear 3'UTR luciferase reporter plasmid: TTPA 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for TTPA
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Gene Editing
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTPA
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTPA

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

TTPA_HUMAN, P49638: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
endosome	2
nucleus	2
extracellular	1
golgi apparatus	1
plasma membrane	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005770	late endosome	IEA	--
GO:0005829	cytosol	IEA	--

TTPA for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TTPA
Interactions:

Search GeneGlobe Interaction Network for TTPA

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

Selected Interacting proteins for TTPA (P49638³ ENSP00000260116⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NR3C1	P04150³	I2D: score=1
MGMT	ENSP00000302111⁴	STRING: ENSP00000302111
EXOC4	ENSP00000253861⁴	STRING: ENSP00000253861
MRGBP	ENSP00000359518⁴	STRING: ENSP00000359518
PFDN4	ENSP00000360473⁴	STRING: ENSP00000360473

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Gene Ontology (GO): Selected biological process terms (see all 14): About this table

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	--

TTPA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for TTPA

1 HMDB Compound for TTPA About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-Tocopherol	Vitamin Ea (see all 22)	59-02-9	--

2 DrugBank Compounds for TTPA About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
1-{2-[2-(2-Methoxyethoxy)Ethoxy]Ethoxy}-4-(1,1,3,3-Tetramethylbutyl)Benzene	--	--	carrier	--	17139284 17016423 10592235
Vitamin E	alpha-Tocopherol (see all 2)	59-02-9	carrier	--	--

Selected Novoseek inferred chemical compound relationships for TTPA gene (see all 13) About this table

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)

TTPA for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for TTPA gene:

NM_000370.3

Unigene Cluster for TTPA:

Tocopherol (alpha) transfer protein

Hs.69049 [show with all ESTs]

Unigene Representative Sequence: NM_000370

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

ENST00000521138 ENST00000260116(uc003xux.2)

miRNA Products:		Block miRNA regulation of human, mouse, rat TTPA using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate TTPA (see all 21):
		hsa-miR-142-5p hsa-miR-30c hsa-miR-1178 hsa-miR-125a-5p hsa-miR-3660 hsa-miR-30d hsa-miR-340 hsa-miR-3133

		SwitchGear 3'UTR luciferase reporter plasmid: TTPA 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for TTPA
		Predesigned siRNA for gene silencing in human, mouse, rat TTPA

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		GenScript: all cDNA clones in your preferred vector: TTPA (NM_000370)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTPA
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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TTPA
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		QuantiFast Probe-based Assays in human, mouse, rat TTPA

Additional mRNA 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 AL119672 BG614543 BX101071

BC041784 AW043604 U21938 BE971379 BG427807 H68464 N56849 H68830

AA703331 BG400921

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TTPA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGTTCACAAA

About this image

TTPA expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


Epithelial Cells
Duct Cells Pancreatic Ducts

Pancreas (Endocrine System)
Duct Cells Pancreatic Ducts

Blood (Hematopoietic System)
Hematopoietic Stem Cells Hematopoietic Bone Marrow

Liver (Hepatobiliary System)

TTPA Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TTPA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.69049

Custom PCR Arrays for TTPA

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for TTPA
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TTPA
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTPA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for TTPA gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ttpa^{1 , 5}	tocopherol (alpha) transfer protein^{1, 5}	86.57(n)¹ 89.21(a)¹		4 (7.76 cM)⁵ 50500¹ NM_015767.3¹ NP_056582.1¹ 20007938⁵
chicken (Gallus gallus)	Aves	TTPA¹	tocopherol (alpha) transfer protein	74.16(n) 73.41(a)		771074 XM_001234375.2 XP_001234376.2
lizard (Anolis carolinensis)	Reptilia	TTPA⁶	tocopherol (alpha) transfer protein	69(a)	1 ↔ 1	4(29427324-29450489)
zebrafish (Danio rerio)	Actinopterygii	wufd44e05²	wufd44e05	76.8(n)		325906 BC055617.1
fruit fly (Drosophila melanogaster)	Insecta	CG10237³	retinal binding	32(a)		37E1 --

ENSEMBL Gene Tree for TTPA (if available)
TreeFam Gene Tree for TTPA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TTPA gene

TTPAL² RLBP1² CLVS2² CLVS1²

5 SIMAP similar genes for TTPA using alignment to 1 protein entry: TTPA_HUMAN:

CLVS1 CLVS2 RLBP1 DKFZp686E0870 TTPAL

TTPA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35916840^1,2,,4	F	Ataxia with isolated vitamin E deficiency (AVED)⁴ --	64075439(-)	`AGGAAC/TGGGTG`	2	R W	mis¹		7		MN NA	396
rs28936369^1,2,4		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_007858	2		mis⁴		0	--	--	--	--
VAR_005668⁴		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_005668	2	H Q	mis⁴		0	--	--	--	--
VAR_022390⁴		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_022390	2	E K	mis⁴		0	--	--	--	--
VAR_022388⁴		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_022388	2	R W	mis⁴		0	--	--	--	--
VAR_022389⁴		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_022389	2	A T	mis⁴		0	--	--	--	--
VAR_022392⁴		Ataxia with isolated vitamin E deficiency (AVED)⁴	--	see VAR_022392	2	G R	mis⁴		0	--	--	--	--
rs121917850^1,2	C	pathogenic¹	64075525(-)	`AGTTCA/GTGGCA`	2	H R	mis¹		0	--	--	--	--
rs121917851^1,2	C	pathogenic¹	64077287(-)	`TATTTC/TGAGTA`	2	R *	stg¹		0	--	--	--	--
rs121917849^1,2	C	pathogenic¹	64084220(-)	`TACCAG/TGGAGT`	2	Q H	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TTPA (63961112 - 63998612 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for TTPA: --
Human Gene Mutation Database (HGMD): TTPA

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TTPA

DNA2.0 Custom Variant and Variant Library Synthesis for TTPA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 600415
OMIM disorders: 277460
UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638

Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]: An autosomal recessive disease

characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration,

ataxia, areflexia and proprioception loss. Note=The disease is caused by mutations affecting the gene represented

in this entry

Selected diseases for TTPA (see all 36):
About MalaCards

ataxia with vitamin e deficiency hereditary ataxia abetalipoproteinemia spinocerebellar ataxia type 8

doid:4019 friedreich ataxia apraxia spinocerebellar degeneration

distal hereditary motor neuropathy ataxia protein s deficiency autosomal recessive disease

cerebellar ataxia retinal disease retinitis pigmentosa spinocerebellar ataxia

peripheral neuropathy albinism retinitis ataxia telangiectasia

5 diseases from the University of Copenhagen DISEASES database for TTPA:

Friedreich ataxia Abetalipoproteinemia Cerebellar ataxia Apraxia

DOID:4019

TTPA for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for TTPA gene (see all 15) About this table

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)

GeneTests: TTPA
GeneReviews: TTPA
Genetic Association Database (GAD): TTPA
Human Genome Epidemiology (HuGE) Navigator: TTPA (55 documents)

Export disorders for TTPA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TTPA gene, integrated from 10 sources (see all 132):
(articles sorted by number of sources associating them with TTPA)

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Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PubMed id 7887897)^{1, 2, 3, 9} Arita M.... Inoue K. (Biochem. J. 1995)
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. (PubMed id 7719340)^{1, 2, 3, 9} Ouahchi K.... Koenig M. (Nat. Genet. 1995)
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. (PubMed id 8602747)^{1, 2, 9} Hentati A.... Siddique T. (Ann. Neurol. 1996)
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (PubMed id 7566022)^{1, 2, 9} Gotoda T.... Yamada N. (N. Engl. J. Med. 1995)
The molecular basis of vitamin E retention: structure of human alpha- tocopherol transfer protein. (PubMed id 12899840)^{1, 2, 9} Meier R.... Stocker A. (J. Mol. Biol. 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, 9} Mariotti C.... Di Donato S. (Neurol. Sci. 2004)
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. (PubMed id 9463307)^{1, 2, 9} Cavalier L.... Koenig M. (Am. J. Hum. Genet. 1998)
Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PubMed id 19190344)^{1, 4, 9} Wright M.E....Albanes D. (Cancer Res. 2009)
Molecular determinants of heritable vitamin E deficiency. (PubMed id 15065857)^{1, 2, 9} Morley S.... Manor D. (Biochemistry 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, 9} Min K.C.... Hendrickson W.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 7274	HGNC: 12404	AceView: TTPA	Ensembl:ENSG00000137561	euGenes: HUgn7274
ECgene: TTPA	H-InvDB: TTPA

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TTPA	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TTPA[genesymbol]

Intellectual Property for TTPA gene
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Tocopherol (Alpha) Transfer Protein

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Tocopherol (Alpha) Transfer Protein

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