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Open Access Articles- Top Results for COL6A2

COL6A2

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCOL6A2 ; PP3610
External IDsOMIM120240 MGI88460 HomoloGene1392 GeneCards: COL6A2 Gene
RNA expression pattern
File:PBB GE COL6A2 209156 s at tn.png
File:PBB GE COL6A2 213290 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez129212834
EnsemblENSG00000142173ENSMUSG00000020241
UniProtP12110Q02788
RefSeq (mRNA)NM_001849NM_146007
RefSeq (protein)NP_001840NP_666119
Location (UCSC)Chr 21:
47.52 – 47.55 Mb
Chr 10:
76.6 – 76.62 Mb
PubMed search[1][2]

Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.[1]

Function

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.[1]

References

Further reading

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External links

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