靶标:
COL17A1
产品别名:
BA16H23.2; BP180; BPA-2; BPAG2; ERED; JEB4; LAD-1; COL17A1; collagen type XVII alpha 1 chain; collagen type XVII alpha 1 chain; collagen alpha-1(XVII) chain; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16H23.2 (collagen, type XVII, alpha 1 (BP180)); bullous pemphigoid antigen 2 (180kD); collagen XVII, alpha-1 polypeptide; collagen, type XVII, alpha 1; type XVII collagen alpha-1; XVII型胶原蛋白/胶原蛋白17/17型胶原蛋白;
背景信息:
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],