COL9A3

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Type IX collagen, alpha 3
other names
  • Alpha-3 type IX collagen
  • Collagen Alpha-3 (IX) chain
  • Collagen alpha-3 chain type IX

Existing structural data : PDB  5CTD , PDB  5CVA , PDB  5CVB

Properties of human protein
Mass / length primary structure 684 amino acids , 63,616 Da
Identifier
Gene names COL9A3; DJ885L7.4.1, EDM3, MED, IDD
External IDs
Occurrence
Parent taxon Euteleostomi
Orthologue
human House mouse
Entrez 1299 12841
Ensemble ENSG00000092758 ENSMUSG00000027570
UniProt Q14050
Refseq (mRNA) NM_001853 NM_009936
Refseq (protein) NP_001844.3
Gene locus Chr 20: 62.82 - 62.84 Mb Chr 2: 180.6 - 180.62 Mb
PubMed search 1299 12841

Collagen type IX, alpha 3 is a fibrillenassoziiertes collagen that the gene COL9A3 is encoded. It forms with the related collagen type IX, alpha 1 and collagen type IX, alpha 2 heterotrimers , which in turn form collagen fibrils of type IX.

properties

Collagen type IX, alpha 3 is part of the hyaline cartilage and the vitreous body . COL9A3 participates in the metabolic pathways of interleukin-3 and interleukin-5 , as well as in signal transduction from GM-CSF and the interaction with NCAM1 .

Mutations in the COL9A3 gene can lead to multiple epiphyseal dysplasia type 3 and disc disease.

Web links

Individual evidence

  1. ↑ Lisa A. Neuhold, Loran Killar, Weiguang Zhao, Mei-Li Sung A., Linda Warber, John Kulik, William Wu, C. Billinghurst, T. Meijers, A. Robin Poole, Philip Babi, Louis J. DeGennaro: Postnatal expression in hyaline cartilage of constitutively active human collagenase-3 (MMP-13) induces osteoarthritis in mice . In: J Clin Invest . 107, No. 1, January 2001, pp. 24-44. doi : 10.1172 / JCI10564 . PMC 198546 (free full text).
  2. ↑ Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P .: Autosomal Recessive Stickler Syndrome Due to a Loss of Function Mutation in the COL9A3 Gene . (PDF): Am J Met Genet Part A . 2014, pp. 42–47.
  3. ↑ Michael D. Briggs, Michael J. Wright, Geert R. Mortier: Multiple Epiphyseal Dysplasia, Autosomal Dominant . In: GeneReviews . January 8, 2013. PMID 20301302 .
  4. ^ Tushar N. Rathod, Ajay S. Chandanwale, Shubhangi Gujrathi, Vinayak Patil, Shital A. Chavan, Munjal N. Shah: Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population . In: Indian J Orthop . 46, No. 4, July 2012, pp. 420-426. doi : 10.4103 / 0019-5413.97261 . PMC 3421932 (free full text).