COL18A1 Polyclonal Antibody

disease:Defects in COL18A1 are a cause of Knobloch syndrome (KNO) [MIM:267750]. KNO is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele.,function:COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.,function:Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.,polymorphism:There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,similarity:Belongs to the multiplexin collagen family.,similarity:Contains 1 FZ (frizzled) domain.,similarity:Contains 1 TSP N-terminal (TSPN) domain.,tissue specificity:Present in multiple organs with highest levels in liver, lung and kidney.,