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COL17A1 / Collagen XVII is 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.
Gene Name: | collagen, type XVII, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL17A1, Alpha 1 type XVII collagen, BA16H23.2, BP180, Bullous pemphigoid antigen 2, BPA-2, BPAG2, Collagen alpha-1(XVII) chain, Collagen, type XVII, alpha 1, Lad-1 |
Target Sequences: | NM_000494 NP_000485.3 Q9UMD9 |
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