| COL12A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 120320 MGI: 88448 HomoloGene: 3217 GeneCards: COL12A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.[5][6]
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.
Alternatively spliced transcript variants encoding different isoforms have been identified.[6]
Clinical significance
- Bethlem myopathy 2 (also known as Ehlers-Danlos syndrome myopathic type) is associated with mutations in the COL12A1 gene[7]
- Ullrich congenital muscular dystrophy 2 is associated with mutations in the COL12A1 gene[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000111799 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032332 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, et al. (April 1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics. 41 (2): 236–242. doi:10.1006/geno.1997.4638. PMID 9143499.
- 1 2 "Entrez Gene: COL12A1 collagen, type XII, alpha 1".
- 1 2 "Collagen, Type XII, Alpha-1; COL12A1 Gene-Phenotype Relationships". Online Mendelian Inheritance in Man.
Further reading
- Oh SP, Taylor RW, Gerecke DR, Rochelle JM, Seldin MF, Olsen BR (October 1992). "The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6". Genomics. 14 (2): 225–231. doi:10.1016/S0888-7543(05)80210-1. PMID 1427837.
- Sugrue SP, Gordon MK, Seyer J, Dublet B, van der Rest M, Olsen BR (August 1989). "Immunoidentification of type XII collagen in embryonic tissues". The Journal of Cell Biology. 109 (2): 939–945. doi:10.1083/jcb.109.2.939. PMC 2115737. PMID 2668306.
- Gordon MK, Gerecke DR, Olsen BR (September 1987). "Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 84 (17): 6040–6044. Bibcode:1987PNAS...84.6040G. doi:10.1073/pnas.84.17.6040. PMC 299003. PMID 3476925.
- Wälchli C, Koch M, Chiquet M, Odermatt BF, Trueb B (February 1994). "Tissue-specific expression of the fibril-associated collagens XII and XIV". Journal of Cell Science. 107 ( Pt 2) (2): 669–681. doi:10.1242/jcs.107.2.669. PMID 8207089.
- Berthod F, Germain L, Guignard R, Lethias C, Garrone R, Damour O, et al. (May 1997). "Differential expression of collagens XII and XIV in human skin and in reconstructed skin". The Journal of Investigative Dermatology. 108 (5): 737–742. doi:10.1111/1523-1747.ep12292122. PMID 9129225.
- Wessel H, Anderson S, Fite D, Halvas E, Hempel J, SundarRaj N (October 1997). "Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices". Investigative Ophthalmology & Visual Science. 38 (11): 2408–2422. PMID 9344363.
- Chiquet M, Mumenthaler U, Wittwer M, Jin W, Koch M (October 1998). "The chick and human collagen alpha1(XII) gene promoter--activity of highly conserved regions around the first exon and in the first intron". European Journal of Biochemistry. 257 (2): 362–371. doi:10.1046/j.1432-1327.1998.2570362.x. PMID 9826181.
- Trächslin J, Koch M, Chiquet M (March 1999). "Rapid and reversible regulation of collagen XII expression by changes in tensile stress". Experimental Cell Research. 247 (2): 320–328. doi:10.1006/excr.1998.4363. PMID 10066359.
- Gregory KE, Keene DR, Tufa SF, Lunstrum GP, Morris NP (November 2001). "Developmental distribution of collagen type XII in cartilage: association with articular cartilage and the growth plate". Journal of Bone and Mineral Research. 16 (11): 2005–2016. doi:10.1359/jbmr.2001.16.11.2005. PMID 11697796. S2CID 26927835.
- Saika S, Miyamoto T, Tanaka T, Ishida I, Ohnishi Y, Ooshima A (December 2001). "Collagens XII and XIV (FACITs) in capsular opacification and in cultured lens epithelial cells". Current Eye Research. 23 (6): 463–468. doi:10.1076/ceyr.23.6.463.6971. PMID 12045897. S2CID 41275312.
- Jin X, Iwasa S, Okada K, Ooi A, Mitsui K, Mitsumata M (August 2003). "Shear stress-induced collagen XII expression is associated with atherogenesis". Biochemical and Biophysical Research Communications. 308 (1): 152–158. doi:10.1016/S0006-291X(03)01344-5. PMID 12890494.
- Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, et al. (September 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–1718. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Thierry L, Geiser AS, Hansen A, Tesche F, Herken R, Miosge N (November 2004). "Collagen types XII and XIV are present in basement membrane zones during human embryonic development". Journal of Molecular Histology. 35 (8–9): 803–810. doi:10.1007/s10735-004-1132-y. PMID 15609093. S2CID 30409158.
- Storlazzi CT, Wozniak A, Panagopoulos I, Sciot R, Mandahl N, Mertens F, Debiec-Rychter M (April 2006). "Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)". International Journal of Cancer. 118 (8): 1972–1976. doi:10.1002/ijc.21586. PMID 16284948. S2CID 28327388.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
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