Biology:Collagen, type XVIII, alpha 1

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Short description: Mammalian protein found in Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.[1]

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. Two transcript variants encoding different isoforms have been found for this gene.[2]

See also

Collagen

References

  1. "Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21". Genomics 19 (3): 494–9. Jun 1994. doi:10.1006/geno.1994.1098. PMID 8188291. 
  2. "Entrez Gene: COL18A1 collagen, type XVIII, alpha 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80781. 

Further reading

External links

  • Overview of all the structural information available in the PDB for UniProt: P39060 (Human Collagen alpha-1(XVIII) chain) at the PDBe-KB.
  • Overview of all the structural information available in the PDB for UniProt: P39061 (Mouse Collagen alpha-1(XVIII) chain) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.