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COL18A1
[Collagen XVIII (Alpha 1), encoded by the human COL18A1 gene, is the alpha chain of type XVIII collagen. Mutations in this gene are a cause of Knobloch syndrome. The main features of this syndrome involve retinal abnormalities and this protein may play an important role in retinal structure and in neural tube closure. There is an association between a polymorphism in position 1437 and prostate cancer. Three transcripts have been identified for this gene as a result of alternate promoter utilization and alternative splicing. A long variant predominates in liver, while a short variant is present in conventional basement membranes. This protein is present in multiple organs with highest levels in liver, lung and kidney. The proteolytically produced C-terminal fragment of Collagen XVIII (Alpha 1) is endostatin, a potent antiangiogenic protein. (From LocusLink, Swiss-Prot, and NCI) ( NCI )]
UMLS (NCI) C0251815- Amino Acid, Peptide, or Protein
- Biologically Active Substance
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