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Gene : COL18A1 Homo sapiens

Name  ? collagen type XVIII alpha 1 chain Cytological Location  21q22.3
Brief Description  collagen type XVIII alpha 1 chain
Description  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. [provided by RefSeq, Dec 2014]
  • synonyms:
  • NM_001379500,
  • Knobloch syndrome, type 1,
  • collagen, type XVIII, alpha 1,
  • KNO,
  • GLCC,
  • uc062awh.1,
  • HGNC:2195,
  • KNO1,
  • endostatin,
  • KS,
  • COL18A1,
  • KNO1,
  • KS,
  • KNO,
  • OTTHUMG00000090407
  • identifiers:
  • 80781,
  • ENSG00000182871,
  • COL18A1

Genome feature

Region: gene ? Length: 108556  
Location: 21:45405165-45513720 Cyto location: 21q22.3

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2 Diseases

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3740 SNPs

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results