Aliases for COL18A1 Gene
External Ids for COL18A1 Gene
Previous HGNC Symbols for COL18A1 Gene
Previous GeneCards Identifiers for COL18A1 Gene
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for COL18A1 Gene
COL18A1 (Collagen Type XVIII Alpha 1) is a Protein Coding gene. Diseases associated with COL18A1 include knobloch syndrome, type 1 and knobloch syndrome. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is COL15A1.
UniProtKB/Swiss-Prot for COL18A1 Gene
COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.