Collagen, Type VII, Alpha 1 (COL7A1) ELISA Kit for Human

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

COL7A1: the alpha chain of type VII collagen, an extra-cellular basement membrane protein restricted to the zone beneath stratified squamous epithelia. Type VII collagen fibrils are composed of three identical alpha collagen chains. Forms anchoring fibrils, which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen. Dystrophic epidermolysis bullosa can result from defects in this protein or an autoimmune response made to type VII collagen. Homotrimer. Interacts with MIA3, facilitating its loading into transport carriers and subsequent secretion. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted; Extracellular matrix; Inhibitor

Chromosomal Location of Human Ortholog: 3p21.1

Cellular Component: extracellular matrix; extracellular space; collagen type VII; endoplasmic reticulum lumen; extracellular region; basement membrane

Molecular Function: serine-type endopeptidase inhibitor activity; identical protein binding; protein binding

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

Disease: Transient Bullous Dermolysis Of The Newborn; Epidermolysis Bullosa Dystrophica, Autosomal Dominant; Nail Disorder, Nonsyndromic Congenital, 8; Epidermolysis Bullosa Dystrophica, Autosomal Recessive; Epidermolysis Bullosa Dystrophica, Pretibial; Epidermolysis Bullosa Pruriginosa; Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails