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COL5A1, collagen type V alpha 1 chain

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COL5A1, collagen type V alpha 1 chain

  • This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

  • Gene Synonyms (collagen alpha-1(V) chain, collagen, type V, alpha 1, EDSC, EDSCL1,)
  • NCBI Gene ID: 1289
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>A0A087WXW9
    UNIPROT ID#>>A0A024R8E5
    UNIPROT ID#>>Q59EE7
    UNIPROT ID#>>P20908
    UNIPROT ID#>>B2ZZ86
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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