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