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Gene information for COL17A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1308
Official gene symbolCOL17A1
Full namecollagen, type XVII, alpha 1
Aliases,BA16H23.2,BP180,BPAG2,FLJ60881,KIAA0204,LAD-1,
Gene summaryThis 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]
LocationChromosome: 10   Locus: 10q24.3
Gene position105845638 - 105791046  Map Viewer
Gene orientationminus
Gene size54593 bp
Gene sequence
OMIM ID113811