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COL7A1 / Collagen VII
collagen, type VII, alpha 1
COL7A1 / Collagen VII is 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.
| Gene Name: | collagen, type VII, alpha 1 |
| Family/Subfamily: | Collagen , not assigned-Collagen |
| Synonyms: | COL7A1, Collagen alpha 1(vii), Collagen alpha-1(VII) chain, EBDCT, EBR1, Long-chain collagen, Collagen VII, Collagen, type VII, alpha 1, EBD1, LC collagen |
| Target Sequences: | NM_000094 NP_000085.1 Q02388 |
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