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Type VII collagen

COL7A1
Identifiers
Aliases COL7A1, EBD1, EBDCT, EBR1, NDNC8, collagen type VII alpha 1
External IDs MGI: 88462 HomoloGene: 73 GeneCards: COL7A1
RNA expression pattern
PBB GE COL7A1 217312 s at fs.png

PBB GE COL7A1 204136 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000094

NM_007738

RefSeq (protein)

NP_000085

NP_031764.2
NP_031764

Location (UCSC) Chr 3: 48.56 – 48.6 Mb Chr 9: 108.95 – 108.98 Mb
PubMed search

NM_000094

NM_007738

NP_000085

NP_031764.2
NP_031764

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene.

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 autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita.

Type VII collagen is also found in the retina; its function in this organ is unknown.


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Wikipedia

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