Aliases for COL7A1 Gene
External Ids for COL7A1 Gene
Previous HGNC Symbols for COL7A1 Gene
Previous GeneCards Identifiers 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 Chain) is a Protein Coding gene. Diseases associated with COL7A1 include Epidermolysis Bullosa Pruriginosa and Transient Bullous Dermolysis Of The Newborn. Among its related pathways are Metabolism of proteins and ERK Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is COL1A2.
UniProtKB/Swiss-Prot Summary 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.