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 Basal Laminar Drusen and Brittle Cornea Syndrome 2. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (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.