Gene Symbol | COL7A1 |
Entrez Gene ID | 1294 |
Full Name | collagen type VII alpha 1 chain |
Synonyms | EBD1,EBDCT,EBR1,NDNC8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysis bullosa dystrophica, AR, 226600 (3); Epidermolysis bullosa, pretibial, 131850 (3); EBD, Bart type, 132000 (3); EBD, localisata variant (3); Transient bullous of the newborn, 131705 (3); Epidermolysis bullosa pruriginosa, 604129 (3); Toenail dystrophy, isolated, 607523 (3); EBD inversa, 226600 (3) |