COL7A1, Official Symbol COL7A1provided by HGNC Official Full Name collagen type VII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2214 See related Ensembl:ENSG00000114270 MIM:120120; AllianceGenome:HGNC:2214 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBD1; EBR1; EBDCT; NDNC8 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] Expression Biased expression in skin (RPKM 63.4), endometrium (RPKM 13.0) and 5 other tissues See more Orthologs mouse all