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
背景
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. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.