COL18A1 Gene

COL18A1 is the acronym for "Collagen Type XVIII Alpha 1 Chain". The COL18A1 gene is a protein coding gene located on chromosome 21q22.3. This gene encodes the alpha chain of collagen type XVIII.

Collagen type XVII belongs to the multiplexins, extracellular matrix proteins that contain multiple triple helix domains (collagenous domains) interrupted by non-collagenous domains.

Proteolytic processing at multiple endogenous cleavage sites in the C-terminal domain leads to the production of endostatin, a potent anti-angiogenic protein that can inhibit angiogenesis and tumor growth.

Diseases associated with COL18A1 include:

• Knobloch syndrome 1 (very rare disorder characterized by severe visual impairment and cranial defect. A characteristic feature of Knobloch syndrome is extreme myopia (high myopia).
• and
• primary narrow-angle glaucoma.

Related signaling pathways include integrin cell surface interactions and ERK signaling. An important paralog of this gene is COL4A1.

COL18A1 may regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; function requires homotrimerization and implicates MAPK signaling.

Furthermore, COL18A1 effectively inhibits VEGFA-induced proliferation , angiogenesis and migration of endothelial cells (PubMed:9459295). It may inhibit angiogenesis by binding to heparan sulfate proteoglycans involved in growth factor signaling (By similarity). COL18A1 appears to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA with its receptor KDR/VEGFR2.

Furthermore, COL18A1 appears to be associated with atopic diathesis.

1. Castro-Giner F et al. (2009) A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). BMC Med Genet10:128.