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