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COL7A1, collagen type VII alpha 1 chain

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COL7A1, collagen type VII alpha 1 chain

  • This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

  • Gene Synonyms (collagen alpha-1(VII) chain, LC collagen, collagen VII, alpha-1 polypeptide, collagen, type VII, alpha 1, long-chain collagen, EBD1, EBDCT, EBR1, NDNC8,)
  • NCBI Gene ID: 1294
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q59F16
    UNIPROT ID#>>Q02388
  • 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.

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.

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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