Collagen Type XVII, Aa507-548 (COL17A1) Antibody – Rabbit Polyclonal

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]

COL17A1: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane. Defects in COL17A1 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB). GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Extracellular matrix; Membrane protein, integral; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 10q24.3

Cellular Component: collagen; hemidesmosome; integral to plasma membrane; endoplasmic reticulum lumen; plasma membrane; extracellular region; basement membrane; intercellular junction

Molecular Function: protein binding

Biological Process: collagen catabolic process; extracellular matrix disassembly; epidermis development; extracellular matrix organization and biogenesis; hemidesmosome assembly; cell-matrix adhesion

Disease: Epidermolysis Bullosa, Junctional, Non-herlitz Type