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

TTC7A Gene

protein-coding   GIFtS: 48
GCID: GC02P047143

tetratricopeptide repeat domain 7A

(Previous name: tetratricopeptide repeat domain 7 )
(Previous symbol: TTC7)
 Explore 5 diseases affiliated with
TTC7A via our new
 Human Malady Compendium 
Biological research products
for TTC7A
    

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

Aliases
Tetratricopeptide Repeat Domain 7A1 2
TTC71 2 3 5
KIAA11401 3 5
TPR Repeat Protein 7A2 3
Tetratricopeptide Repeat Domain 71
Tetratricopeptide Repeat Protein 7A2

External Ids:    HGNC: 197501   Entrez Gene: 572172   Ensembl: ENSG000000687247   OMIM: 6093325   UniProtKB: Q9ULT03   

Export aliases for TTC7A gene to outside databases

Previous GC identifers: GC02P047079 GC02P047021 GC02P046906


(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 TTC7A:
The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR
domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate
turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins (White et al.,
2005 (PubMed 15718100)).(supplied by OMIM, Mar 2008)




(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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC7A gene promoter:
         NF-1   NF-1/L   AML1a   GATA-3   Egr-1   Lmo2   Egr-4   CREB   deltaCREB   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TTC7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC7A


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p16.3

TTC7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC7A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P047143:  view genomic region     (about GC identifiers)

Start:
47,143,296 bp from pter      End:
47,303,276 bp from pter
Size:
159,981 bases      Orientation:
plus 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: TTC7A_HUMAN, Q9ULT0 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 7A  
Size: 858 amino acids; 96185 Da
Sequence caution: Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q6PIX4 Q8ND67 Q9BUS3
Alternative splicing: 2 isoforms:  Q9ULT0-1   Q9ULT0-3   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for TTC7A: NX_Q9ULT0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULT0

  • TTC7A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065191.2  
    ENSEMBL proteins: 
     ENSP00000386307   ENSP00000316699   ENSP00000378320   ENSP00000393022   ENSP00000386521  
     ENSP00000401467   ENSP00000445265   ENSP00000263737  

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    Uscn Proteins for TTC7A


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

    TTC7A for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR026900 Ttc7
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q9ULT0

    ProtoNet protein and cluster: Q9ULT0

    UniProtKB/Swiss-Prot: TTC7A_HUMAN, Q9ULT0
    Similarity: Contains 9 TPR repeats


    (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

    miRNA
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    miRTarBase miRNAs that target TTC7A:
    hsa-mir-124 (MIRT002709)

    OriGene 3'-UTR Clone: TTC7A
    Browse MicroRNA Expression Plasmids
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC7A (see all 21):
    hsa-miR-362-3p hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-3692 hsa-miR-3171 hsa-miR-1184 hsa-miR-124 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTTC7A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A

    1 GenomeRNAi human phenotype for TTC7A:
     Decreased nuclei size in G2M 

    Animal Models:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ttc7):
     cardiovascular system  digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 
     pigmentation  renal/urinary system  tumorigenesis 

    TTC7A 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 TTC7A

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

    1 Interacting protein for TTC7A (ENSP000003166994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis IEA--
    GO:0030097hemopoiesis IEA--


    TTC7A 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTC7A
    Search CenterWatch for drugs/clinical trials and news about TTC7A 

    (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 TTC7A gene: 
    NM_020458.2  

    Unigene Clusters for TTC7A:

    Tetratricopeptide repeat domain 7A
    Hs.370603  [show with all ESTs], Hs.736871  [show with all ESTs]
    Unigene Representative Sequences: NM_020458, BC027457
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409245 ENST00000319190(uc002rvn.1 uc002rvm.3 uc002rvo.3 uc010fbb.3 uc010fbc.3)
    ENST00000461601 ENST00000394850 ENST00000441914 ENST00000409825(uc002rvp.3 uc002rvq.3 uc002rvr.3)
    ENST00000474321 ENST00000491786 ENST00000484061 ENST00000440051 ENST00000484337
    ENST00000496991 ENST00000536057 ENST00000263737

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TTC7A
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC7A (see all 21):
    hsa-miR-362-3p hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-3692 hsa-miR-3171 hsa-miR-1184 hsa-miR-124 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTTC7A 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AL117512.1 BC027457.2 

    18 DOTS entries:

    DT.444751  DT.95256027  DT.100813457  DT.100641842  DT.95256014  DT.97808830  DT.95256011  DT.120932738 
    DT.95256008  DT.95256030  DT.91848849  DT.95256005  DT.95256026  DT.104046  DT.95256003  DT.95256013 
    DT.120932816  DT.97827439 

    3 AceView cDNA sequences:

    AI418397 BF431723 BQ709930 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TTC7A (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                  -                 -                                                           -                 -         
    SP2:                    -                 -           -                 -                                                           -                 -         
    SP3:                                                                    -                                                           -                 -         
    SP4:                                                                                                        -     -                 -                 -         
    SP5:                                                                                                                                                  -         

    ExUns: 23 ^ 24a · 24b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TTC7A

    (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

    TTC7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGGGACCT

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

    About this image
    See TTC7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC7A

    SOURCE GeneReport for Unigene clusters: Hs.370603 Hs.736871
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A

    (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 eukaryotes.

    Orthologs for TTC7A gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TTC7A1 tetratricopeptide repeat domain 7A 69.67(n)
    72.81(a)
      421414  NM_001031055.1  NP_001026226.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    73(a)
    65(a)
    1 ↔ many
    1 ↔ many
    2(143277551-143314871)
    2(143136898-143186636)
    zebrafish
    (Danio rerio)
    Actinopterygii ttc7a1 tetratricopeptide repeat domain 7A 59.66(n)
    54.57(a)
      559345  XM_001921194.3  XP_001921229.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)k147106
    lethal (2) k14710
    32(a)
    1 → many
    2R(2097287-2101623)
    worm
    (Caenorhabditis elegans)
    Secernentea Y39A3CR.36
    --
    22(a)
    1 → many
    III(1860420-1877106)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NPG11 tetratricopeptide repeat-containing protein 41.01(n)
    29.53(a)
      818906  NM_180051.2  NP_850382.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g06893001 hypothetical protein 39.26(n)
    27.03(a)
      4351154  NM_001075021.1  NP_001068489.1 


    ENSEMBL Gene Tree for TTC7A (if available)
    TreeFam Gene Tree for TTC7A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC7A gene
    TTC7B2  
    5 SIMAP similar genes for TTC7A using alignment to 9 protein entries:     TTC7A_HUMAN (see all proteins):
    L3MBTL2    TTC7B    ADCY7    PAM16    PSEN1

    TTC7A 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

    10/2871 NCBI SNPs in TTC7A are shown (see all 2871    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1430898871,2
    --47166317(+) CAGGAC/GCTAAA 8 -- us2k1 int10--------
    rs1921088011,2
    --47166374(+) TACAAC/TAGCCT 8 -- us2k1 int10--------
    rs133924481,2
    C,F,A,--47166410(+) TAAAAT/CTGGCC 8 -- us2k1 int1 tfbs37Minor allele frequency- C:0.18NA WA EA 366
    rs1839555861,2
    --47166419(+) CCAGGC/TGCAGT 8 -- us2k1 int10--------
    rs1474753351,2
    --47166618(+) TCCCCA/TCACTC 8 -- us2k1 int10--------
    rs1485114861,2
    --47166715(+) TACAAC/TCTGGG 8 -- us2k1 int10--------
    rs1876241991,2
    --47166769(+) GGTCTC/TATTTC 8 -- us2k1 int10--------
    rs134303461,2
    C,--47166822(+) CTGCCC/TCAGGG 8 -- int1 us2k13Minor allele frequency- T:0.09WA NA 240
    rs1427515471,2
    --47166881(+) GGTCAC/TCCTAA 8 -- us2k1 int10--------
    rs134075881,2
    C,--47167133(+) TGCCCA/GCCAAA 8 -- us2k1 int1 tfbs33Minor allele frequency- G:0.09WA NA 240

    HapMap Linkage Disequilibrium report for TTC7A (47143296 - 47303276 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TTC7A
         1 CNV: 50509
         1 Indel: 50508

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC7A
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC7A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTC7A for disorders           About GeneDecksing

    OMIM gene information: 609332    OMIM disorders: --

    5 diseases for TTC7A:    About MalaCards
    rheumatoid arthritis    arthritis    prostate cancer    anemia
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: TTC7A (1 document)

    Export disorders for TTC7A 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 TTC7A gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TTC7A)
        Utopia: connect your pdf to the dynamic
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    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (1999)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. 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)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1 Barber M.J....Krauss R.M. (2010)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Genome-wide association study to identify single nucl eotide polymorphisms (SNPs) associated with the development of erectile dysfunc tion in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1 Kerns S.L....Rosenstein B.S. (2010)
    10. Genetic variants at CD28, PRDM1 and CD2/CD58 are asso ciated with rheumatoid arthritis risk. (PubMed id 19898481)1 Raychaudhuri S....Plenge R.M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57217 HGNC: 19750 AceView: TTC7A.1 Ensembl:ENSG00000068724 euGenes: HUgn57217
    ECgene: TTC7A H-InvDB: TTC7A

    (According to HUGE)
    About This Section
    HUGE: KIAA1140

    (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 TTC7A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTC7A gene:
    Search GeneIP for patents involving TTC7A

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