Anticorpi COL18A1

Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.

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.

Present in multiple organs with highest levels in liver, lung and kidney.

Knobloch syndrome 1: A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.

Belongs to the multiplexin collagen family.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.

Secreted > Extracellular space > Extracellular matrix. Secreted > Extracellular space > Extracellular matrix > Basement membrane.

Endostatin is available under the name Endostar (Jiangsu Simcere Pharmaceutical) for the treatment of non-small-cell lung cancer.