Aliases for COL7A1 Gene
External Ids for COL7A1 Gene
Previous Symbols for COL7A1 Gene
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]
GeneCards Summary for COL7A1 Gene
COL7A1 (Collagen, Type VII, Alpha 1) is a Protein Coding gene. Diseases associated with COL7A1 include epidermolysis bullosa, pretibial and dominant dystrophic epidermolysis bullosa. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL7A1 Gene
Stratified squamous epithelial basement membrane protein that 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