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Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2gene.[5][6][7][8]
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.[8]
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^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. doi:10.1038/ng0196-103. hdl:2066/23763. PMID8528240. S2CID1033195.
Warman ML, Tiller GE, Polumbo PA, et al. (1993). "Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)". Genomics. 17 (3): 694–8. doi:10.1006/geno.1993.1391. PMID8244386.
Pihlajamaa T, Vuoristo MM, Annunen S, et al. (1998). "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule". Matrix Biol. 17 (3): 237–41. doi:10.1016/S0945-053X(98)90063-4. PMID9707347.
Fertala A, Sieron AL, Adachi E, Jimenez SA (2002). "Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX". Biochemistry. 40 (48): 14422–8. doi:10.1021/bi0109109. PMID11724554.
Fiedler J, Stöve J, Heber F, Brenner RE (2003). "Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)". Am. J. Med. Genet. 112 (2): 144–53. doi:10.1002/ajmg.10554. PMID12244547.
Matsui Y, Wu JJ, Weis MA, et al. (2004). "Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage". Matrix Biol. 22 (2): 123–9. doi:10.1016/S0945-053X(02)00102-6. PMID12782139.
Jim JJ, Noponen-Hietala N, Cheung KM, et al. (2006). "The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration". Spine. 30 (24): 2735–42. doi:10.1097/01.brs.0000190828.85331.ef. PMID16371896. S2CID1028747.
Takahashi M, Matsui Y, Goto T, et al. (2006). "Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)". Clin. Rheumatol. 25 (4): 591–5. doi:10.1007/s10067-005-0034-z. PMID16440132. S2CID7753058.
This page was last edited on 21 November 2023, at 21:14