Collagen, type IX, alpha 3 explained

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.^{[1] [2] [3]}

Function

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. Mutations in this gene are associated with multiple epiphyseal dysplasia.^[3]

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant

Further reading

• Fahrig T, Landa C, Pesheva P . Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. . EMBO J. . 6 . 10 . 2875–83 . 1988 . 2446864 . 10.1002/j.1460-2075.1987.tb02590.x. 553721 . etal.
• McCormick D, van der Rest M, Goodship J . Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. . Proc. Natl. Acad. Sci. U.S.A. . 84 . 12 . 4044–8 . 1987 . 3473493 . 10.1073/pnas.84.12.4044 . 305018 . 1987PNAS...84.4044M . etal. free .
• Richardson GP, Russell IJ, Duance VC, Bailey AJ . Polypeptide composition of the mammalian tectorial membrane. . Hear. Res. . 25 . 1 . 45–60 . 1987 . 3542919 . 10.1016/0378-5955(87)90078-5 . 42559806 .
• Perälä M, Savontaus M, Metsäranta M, Vuorio E . Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis. . 324 . Biochem. J. . (Pt 1) . 209–16 . 1997 . Pt 1 . 9164858 . 10.1042/bj3240209. 1218418 .
• Paassilta P, Lohiniva J, Annunen S . COL9A3: A third locus for multiple epiphyseal dysplasia. . Am. J. Hum. Genet. . 64 . 4 . 1036–44 . 2000 . 10090888 . 10.1086/302328 . 1377827 . etal.
• Paassilta P, Pihlajamaa T, Annunen S . Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. . J. Biol. Chem. . 274 . 32 . 22469–75 . 1999 . 10428822 . 10.1074/jbc.274.32.22469 . etal. free .
• Bönnemann CG, Cox GF, Shapiro F . A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 3 . 1212–7 . 2000 . 10655510 . 10.1073/pnas.97.3.1212 . 15572 . 2000PNAS...97.1212B . etal. free .
• Lohiniva J, Paassilta P, Seppänen U . Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. . Am. J. Med. Genet. . 90 . 3 . 216–22 . 2000 . 10678658 . 10.1002/(SICI)1096-8628(20000131)90:3<216::AID-AJMG6>3.0.CO;2-1 . etal.
• Paassilta P, Lohiniva J, Göring HH . Identification of a novel common genetic risk factor for lumbar disk disease. . JAMA . 285 . 14 . 1843–9 . 2001 . 11308397 . 10.1001/jama.285.14.1843 . etal. free .
• Czarny-Ratajczak M, Lohiniva J, Rogala P . A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. . Am. J. Hum. Genet. . 69 . 5 . 969–80 . 2001 . 11565064 . 10.1086/324023 . 1274373 . etal.
• Fertala A, Sieron AL, Adachi E, Jimenez SA . Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX. . Biochemistry . 40 . 48 . 14422–8 . 2002 . 11724554 . 10.1021/bi0109109 .
• Deloukas P, Matthews LH, Ashurst J . The DNA sequence and comparative analysis of human chromosome 20. . Nature . 414 . 6866 . 865–71 . 2002 . 11780052 . 10.1038/414865a . 2001Natur.414..865D . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal . 2002PNAS...9916899M. free .
• Matsui Y, Wu JJ, Weis MA . Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage. . Matrix Biol. . 22 . 2 . 123–9 . 2004 . 12782139 . 10.1016/S0945-053X(02)00102-6 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Asamura K, Abe S, Fukuoka H . Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. . Auris Nasus Larynx . 32 . 2 . 113–7 . 2005 . 15917166 . 10.1016/j.anl.2005.01.011 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . etal . 2005Natur.437.1173R. 4427026 .

Notes and References

1. Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR . Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3 . Genomics . 30 . 2 . 329–36 . Mar 1996 . 8586434 . 10.1006/geno.1995.9870 . etal.
2. Wu JJ, Woods PE, Eyre DR . 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 . Dec 1992 . 10.1016/S0021-9258(18)50048-X . 1429648 . free .
3. Web site: Entrez Gene: COL9A3 collagen, type IX, alpha 3.