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Overview
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Gene Accession: NP000485
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Background
COL17A1 (Collagen Type XVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL17A1 include Epidermolysis Bullosa, Junctional, Non-Herlitz Type and Epithelial Recurrent Erosion Dystrophy. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. An important paralog of this gene is COL6A1.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.
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