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Open Access Articles- Top Results for COL9A2

COL9A2

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCOL9A2 ; DJ39G22.4; EDM2; MED; STL5
External IDsOMIM120260 MGI88466 HomoloGene37535 GeneCards: COL9A2 Gene
RNA expression pattern
File:PBB GE COL9A2 213622 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez129812840
EnsemblENSG00000049089ENSMUSG00000028626
UniProtQ14055Q8K2W0
RefSeq (mRNA)NM_001852NM_007741
RefSeq (protein)NP_001843NP_031767
Location (UCSC)Chr 1:
40.77 – 40.78 Mb
Chr 4:
121.04 – 121.06 Mb
PubMed search[1][2]

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.[1][2][3][4]

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia.[4]

References

  1. ^ Perala M, Hanninen M, Hastbacka J, Elima K, Vuorio E (Apr 1993). "Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1". FEBS Lett 319 (1–2): 177–80. PMID 8454052. doi:10.1016/0014-5793(93)80062-Y. 
  2. ^ Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC (Feb 1996). "A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)". Nat Genet 12 (1): 103–5. PMID 8528240. doi:10.1038/ng0196-103. 
  3. ^ Wu JJ, Woods PE, Eyre DR (Dec 1992). "Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding". J Biol Chem 267 (32): 23007–14. PMID 1429648. 
  4. ^ a b "Entrez Gene: COL9A2 collagen, type IX, alpha 2". 

External links

Further reading

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