Aliases for COL15A1 Gene
External Ids for COL15A1 Gene
Previous GeneCards Identifiers for COL15A1 Gene
This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
GeneCards Summary for COL15A1 Gene
COL15A1 (Collagen Type XV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL15A1 include Brittle Cornea Syndrome 2 and Dupuytren Contracture. Among its related pathways are Collagen biosynthesis and modifying enzymes and Phospholipase-C Pathway. GO annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL18A1.
UniProtKB/Swiss-Prot for COL15A1 Gene
Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle.
Restin potently inhibits angiogenesis.