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, Jul 2008]

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

Chromosomal Location of Human Ortholog: 10q24.3

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

Molecular Function: protein binding

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

Disease: Epidermolysis Bullosa, Junctional, Non-herlitz Type; Epithelial Recurrent Erosion Dystrophy