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Open Access Articles- Top Results for Collagen, type XVIII, alpha 1

Collagen, type XVIII, alpha 1

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Identifiers
SymbolsCOL18A1 ; KNO; KNO1; KS
External IDsOMIM120328 MGI88451 HomoloGene7673 GeneCards: COL18A1 Gene
RNA expression pattern
File:PBB GE COL18A1 209082 s at tn.png
File:PBB GE COL18A1 209081 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez8078112822
EnsemblENSG00000182871ENSMUSG00000001435
UniProtP39060P39061
RefSeq (mRNA)NM_030582NM_001109991
RefSeq (protein)NP_085059NP_001103461
Location (UCSC)Chr 21:
46.83 – 46.93 Mb
Chr 10:
77.05 – 77.17 Mb
PubMed search[1][2]

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. ^ Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR (Jun 1994). "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. PMID 8188291. doi:10.1006/geno.1994.1098. 
  2. ^ "Entrez Gene: COL18A1 collagen, type XVIII, alpha 1". 

Further reading

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



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