COL17A1, Official Symbol COL17A1provided by HGNC Official Full Name collagen type XVII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2194 See related Ensembl:ENSG00000065618 MIM:113811; AllianceGenome:HGNC:2194 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 ERED; JEB4; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2 Summary This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 286.9), colon (RPKM 25.5) and 2 other tissues See more Orthologs mouse all