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Gene : COL7A1 Homo sapiens
Name  ? collagen type VII alpha 1 chain Cytological Location  3p21.31
Brief Description  collagen type VII alpha 1 chain
Description  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]
  • synonyms:
  • EBR1,
  • EBD1,
  • collagen VII, alpha-1 polypeptide,
  • OTTHUMG00000133541,
  • collagen, type VII, alpha 1,
  • uc003ctz.3,
  • COL7A1,
  • L02870,
  • EBDCT,
  • epidermolysis bullosa, dystrophic, dominant and recessive,
  • LC collagen,
  • EBR1,
  • EBD1,
  • NDNC8,
  • NM_000094,
  • HGNC:2214,
  • EBDCT
  • identifiers:
  • 1294,
  • ENSG00000114270,
  • COL7A1

Genome feature

Region: gene ? Length: 31257  
Location: 3:48564073-48595329 reverse strand Cyto location: 3p21.31


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19 Pathways

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7 Diseases

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19 Pathways

72 SN Ps

5 Cross References

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4 Homologues

0 Located Features

97 Rna Seq Results





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