| collagen, type VII, alpha 1 | OKDB#: 5162 |
| Symbols: | COL7A1 | Species: | human | ||
| Synonyms: | EBD1, EBR1, EBDCT, NDNC8 | Locus: | 3p21.1 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | Cytoskeleton, Cytoskeleton organization | ||||
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| Cellular localization | Cytoskeleton | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | March 23, 2015, 2:56 p.m. | by: |
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| last update: | March 23, 2015, 2:59 p.m. | by: | hsueh email: |
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