{{cs1 config|name-list-style=vanc}} {{Short description|Protein found in humans}} {{Infobox_gene}} '''Collagen alpha-3(IX) chain''' is a protein that in humans is encoded by the ''COL9A3'' gene.<ref name="pmid8586434">{{cite journal | vauthors = Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR | title = Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3 | journal = Genomics | volume = 30 | issue = 2 | pages = 329–36 |date=Mar 1996 | pmid = 8586434 | doi =10.1006/geno.1995.9870 |display-authors=etal}}</ref><ref name="pmid1429648">{{cite journal | vauthors = Wu JJ, Woods PE, Eyre DR | title = 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 | journal = J Biol Chem | volume = 267 | issue = 32 | pages = 23007–14 |date=Dec 1992 | doi = 10.1016/S0021-9258(18)50048-X | pmid = 1429648 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: COL9A3 collagen, type IX, alpha 3| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1299}}</ref>
== 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.<ref name="entrez"/>
==References== {{reflist}}
==External links== * [https://www.ncbi.nlm.nih.gov/books/NBK1123/ GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant]
==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=Fahrig T, Landa C, Pesheva P |title=Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. |journal=EMBO J. |volume=6 |issue= 10 |pages= 2875–83 |year= 1988 |pmid= 2446864 |doi= 10.1002/j.1460-2075.1987.tb02590.x| pmc=553721 |display-authors=etal}} *{{cite journal | vauthors=McCormick D, van der Rest M, Goodship J |title=Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 12 |pages= 4044–8 |year= 1987 |pmid= 3473493 |doi=10.1073/pnas.84.12.4044 | pmc=305018 |bibcode=1987PNAS...84.4044M |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Richardson GP, Russell IJ, Duance VC, Bailey AJ |title=Polypeptide composition of the mammalian tectorial membrane. |journal=Hear. Res. |volume=25 |issue= 1 |pages= 45–60 |year= 1987 |pmid= 3542919 |doi=10.1016/0378-5955(87)90078-5 |s2cid=42559806 }} *{{cite journal | vauthors=Perälä M, Savontaus M, Metsäranta M, Vuorio E |title=Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis. | series=324 |journal=Biochem. J. |volume=( Pt 1) |pages= 209–16 |year= 1997 |issue=Pt 1 |pmid= 9164858 |doi= 10.1042/bj3240209| pmc=1218418 }} *{{cite journal | vauthors=Paassilta P, Lohiniva J, Annunen S |title=COL9A3: A third locus for multiple epiphyseal dysplasia. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1036–44 |year= 2000 |pmid= 10090888 |doi=10.1086/302328 | pmc=1377827 |display-authors=etal}} *{{cite journal | vauthors=Paassilta P, Pihlajamaa T, Annunen S |title=Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. |journal=J. Biol. Chem. |volume=274 |issue= 32 |pages= 22469–75 |year= 1999 |pmid= 10428822 |doi=10.1074/jbc.274.32.22469 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Bönnemann CG, Cox GF, Shapiro F |title=A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 3 |pages= 1212–7 |year= 2000 |pmid= 10655510 |doi=10.1073/pnas.97.3.1212 | pmc=15572 |bibcode=2000PNAS...97.1212B |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Lohiniva J, Paassilta P, Seppänen U |title=Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. |journal=Am. J. Med. Genet. |volume=90 |issue= 3 |pages= 216–22 |year= 2000 |pmid= 10678658 |doi=10.1002/(SICI)1096-8628(20000131)90:3<216::AID-AJMG6>3.0.CO;2-1 |display-authors=etal}} *{{cite journal | vauthors=Paassilta P, Lohiniva J, Göring HH |title=Identification of a novel common genetic risk factor for lumbar disk disease. |journal=JAMA |volume=285 |issue= 14 |pages= 1843–9 |year= 2001 |pmid= 11308397 |doi=10.1001/jama.285.14.1843 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Czarny-Ratajczak M, Lohiniva J, Rogala P |title=A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 969–80 |year= 2001 |pmid= 11565064 |doi=10.1086/324023 | pmc=1274373 |display-authors=etal}} *{{cite journal | vauthors=Fertala A, Sieron AL, Adachi E, Jimenez SA |title=Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX. |journal=Biochemistry |volume=40 |issue= 48 |pages= 14422–8 |year= 2002 |pmid= 11724554 |doi=10.1021/bi0109109 }} *{{cite journal | vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |bibcode=2001Natur.414..865D |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal |bibcode=2002PNAS...9916899M|doi-access=free }} *{{cite journal | vauthors=Matsui Y, Wu JJ, Weis MA |title=Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage. |journal=Matrix Biol. |volume=22 |issue= 2 |pages= 123–9 |year= 2004 |pmid= 12782139 |doi=10.1016/S0945-053X(02)00102-6 |display-authors=etal}} *{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}} *{{cite journal | vauthors=Asamura K, Abe S, Fukuoka H |title=Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. |journal=Auris Nasus Larynx |volume=32 |issue= 2 |pages= 113–7 |year= 2005 |pmid= 15917166 |doi= 10.1016/j.anl.2005.01.011 |display-authors=etal}} *{{cite journal | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal |bibcode=2005Natur.437.1173R|s2cid=4427026 }} {{refend}}
{{Fibrous proteins}}
Category:Collagens
{{gene-20-stub}}