Collagen, type IX, alpha 1

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Collagen, type IX, alpha 1
Protein COL9A1 PDB 2uur.png
PDB rendering based on 2uur.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL9A1 ; DJ149L1.1.2; EDM6; MED; STL4
External IDs OMIM120210 MGI88465 HomoloGene1393 GeneCards: COL9A1 Gene
RNA expression pattern
PBB GE COL9A1 222008 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1297 12839
Ensembl ENSG00000112280 ENSMUSG00000026147
UniProt P20849 Q05722
RefSeq (mRNA) NM_001851 NM_007740
RefSeq (protein) NP_001842 NP_031766
Location (UCSC) Chr 6:
70.92 – 71.01 Mb
Chr 1:
24.18 – 24.25 Mb
PubMed search [1] [2]

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.[1][2]

This gene encodes one of the three alpha chains of type IX collagen, a collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: COL9A1 collagen, type IX, alpha 1". 

External links[edit]

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