KNO antibody, KNO1 antibody, KS antibody, cb371 antibody, cb529 antibody, fc96d06 antibody, sb:cb529 antibody, wu:fb47h10 antibody, wu:fb77g12 antibody, wu:fc50f04 antibody, wu:fc96d06 antibody, wu:fk02h12 antibody, kno antibody, kno1 antibody, collagen type XVIII alpha 1 chain antibody, collagen type XVIII alpha 1 chain a antibody, collagen, type XVIII, alpha 1 antibody, collagen type XVIII alpha 1 antibody, COL18A1 antibody, col18a1a antibody, Col18a1 antibody, col18a1 antibody
Background
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.