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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTPA Gene

protein-coding   GIFtS: 55
GCID: GC08M064022

tocopherol (alpha) transfer protein

(Previous name: ataxia (Friedreich-like) with vitamin E deficiency )
(Previous symbol: AVED)
 Explore 31 diseases affiliated with
TTPA via our new
 Human Malady Compendium 
Biological research products
for TTPA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tocopherol (Alpha) Transfer Protein1 2     Alpha-Tocopherol Transfer Protein2
AVED1 2 5     AlphaTTP1
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-TTP3     

External Ids:    HGNC: 124041   Entrez Gene: 72742   Ensembl: ENSG000001375617   OMIM: 6004155   UniProtKB: P496383   

Export aliases for TTPA gene to outside databases

Previous GC identifers: GC08M063337 GC08M063913 GC08M063695 GC08M064134 GC08M059459


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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, Nov 2009)

UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638
Function: Binds alpha-tocopherol and enhances its transfer between separate membranes

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008183.19  
Regulatory elements:
   SABiosciences 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 plasmidTTPA promoter sequence
   Search SABiosciences Chromatin IP Primers for TTPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC08M064022:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49638

  • TTPA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000361.1  
    ENSEMBL proteins: 
     ENSP00000260116  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TTPA

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005770late endosome IEA--
    GO:0005829cytosol IEA--


    TTPA for ontologies           About GeneDecksing



    TTPA Antibody Products: 
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    Uscn ELISAs and CLIAs for TTPA


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

    TTPA for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001071 CRAL-bd_toc_tran
     IPR011074 CRAL/TRIO_N_dom
     IPR001251 CRAL-TRIO_dom

    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 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TTPA_HUMAN, P49638
    Function: Binds alpha-tocopherol and enhances its transfer between separate membranes

         Genatlas biochemistry entry for TTPA:
    alpha-tocopherol transfer protein

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TTPA
    8/21 QIAGEN miScript miRNA 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 plasmidTTPA 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTPA (see all 7)
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTPA

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0008431vitamin E binding IEA--
    GO:0019842vitamin binding ----


    TTPA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ttpatm1Hsz for TTPA
         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 EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTPA

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for TTPA (P496383 ENSP000002601164) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR3C1P041503I2D: score=1 
    MGMTENSP000003021114STRING: ENSP00000302111
    --B4DEE83I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development ----
    GO:0001892embryonic placenta development IEA--
    GO:0006629lipid metabolic process TAS7887897
    GO:0006810transport TAS7887897
    GO:0007584response to nutrient IEA--


    TTPA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TTPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTPA

    1 HMDB Compound for TTPA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-TocopherolVitamin Ea (see all 22)59-02-9--

    2 DrugBank Compounds for TTPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-{2-[2-(2-Methoxyethoxy)Ethoxy]Ethoxy}-4-(1,1,3,3-Tetramethylbutyl)Benzene-- --carrier--17139284 17016423 10592235
    Vitamin Ealpha-Tocopherol (see all 2)59-02-9carrier----

    10/13 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TTPA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    8/21 QIAGEN miScript miRNA 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 plasmidTTPA 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TTPA (NM_000370)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTPA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTPA

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.101976708  DT.204951 

    18 AceView cDNA sequences:

    D49488 BM463341 BC058000 BX283648 NM_000370 BG614543 BX101071 AL119672 
    BC041784 AW043604 U21938 H68464 BE971379 BG427807 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTCACAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TTPA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTPA

    SOURCE GeneReport for Unigene cluster: Hs.69049
        SABiosciences Custom PCR Arrays for TTPA
    Primer
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TTPA gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttpa1 , 5 tocopherol (alpha) transfer protein1, 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 74.43(n)
    73.66(a)
      771074  XM_001234375.1  XP_001234376.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTPA6
    --
    68(a)
    1 ↔ 1
    4(29431059-29450489)
    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/478 NCBI SNPs in TTPA are shown (see all 478    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178501,2
    Cpathogenic59464723(-) AGTTCA/GTGGCA 2 H R mis10--------
    rs1219178511,2
    Cpathogenic59466485(-) TATTTC/TGAGTA 2 R * stg10--------
    rs566759111,2
    C,--59460277(+) CACACC/TGGGGC 1 -- ut312Minor allele frequency- T:0.07WA 120
    rs352502811,2
    C,F,--59461917(-) ATGAGG/TTTGAT 1 -- int18Minor allele frequency- T:0.03MN WA CSA 530
    rs78150301,2
    C,F,--59462354(+) CagccG/Aggtgc 1 -- int11Minor allele frequency- A:0.14WA 118
    rs78155881,2
    C,F,--59462753(+) AAGCCG/ATAGAA 1 -- int13Minor allele frequency- A:0.10WA CSA 122
    rs613152211,2
    --59462912(+) ATACTC/TACTTA 1 -- int10--------
    rs726598121,2
    --59463052(+) AAAAGG/TAAAAA 1 -- int10--------
    rs351627931,2
    C,F,--59464482(-) AAAAAA/GAGTAA 1 -- int15Minor allele frequency- G:0.01MN 392
    rs359168401,2
    F--59464637(-) AGGAAC/TGGGTG 2 R W mis17Minor allele frequency- T:0.01MN NA 396

    HapMap Linkage Disequilibrium report for TTPA (63961112 - 63998612 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTPA: --
    Human Gene Mutation Database (HGMD): TTPA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTPA for disorders           About GeneDecksing

    OMIM gene information: 600415   
    OMIM 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

    20/31 diseases for TTPA (see all 31):    About MalaCards
    ataxia    retinitis pigmentosa    ataxia with isolated vitamin e deficiency    distal hereditary motor neuropathy
    spinocerebellar ataxia type 8    retinitis    spinocerebellar ataxia    friedreich ataxia
    abetalipoproteinemia    autosomal recessive disease    apraxia    myocardial infarction
    acute myocardial infarction    spinocerebellar degeneration    cerebellar ataxia    ataxia telangiectasia
    peripheral neuropathy    protein s deficiency    neurodegenerative disease    hereditary ataxia

    5 diseases from the University of Copenhagen DISEASES database for TTPA:
    Friedreich ataxia     Abetalipoproteinemia     Cerebellar ataxia     Apraxia
    DOID:4019

    10/15 Novoseek 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
    Ataxia with Vitamin E Deficiency

    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)
    About This Section

    PubMed articles for TTPA gene, integrated from 9 sources (see all 129):
    (articles sorted by number of sources associating them with TTPA)
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    1. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. (PubMed id 7887897)1, 2, 3, 9 Arita M.... Inoue K. (1995)
    2. 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. (1995)
    3. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. (PubMed id 8602747)1, 2, 9 Hentati A.... Siddique T. (1996)
    4. 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. (1995)
    5. The molecular basis of vitamin E retention: structure of human alpha- tocopherol transfer protein. (PubMed id 12899840)1, 2, 9 Meier R.... Stocker A. (2003)
    6. 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. (2004)
    7. 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. (1998)
    8. Molecular determinants of heritable vitamin E deficiency. (PubMed id 15065857)1, 2, 9 Morley S.... Manor D. (2004)
    9. 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. (2003)
    10. 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)
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    (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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TTPA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTPA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTPA gene:
    Search GeneIP for patents involving TTPA

    GeneCards and IP:
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