Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1gene.[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[]
Ehlers-Danlos syndrome Myopathic type is associated with mutations in the COL12A1gene
Oh SP, Taylor RW, Gerecke DR, et al. (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): 225–31. doi:10.1016/S0888-7543(05)80210-1. PMID1427837.
Wälchli C, Koch M, Chiquet M, et al. (1994). "Tissue-specific expression of the fibril-associated collagens XII and XIV". J. Cell Sci. 107 (2): 669–81. doi:10.1242/jcs.107.2.669. PMID8207089.
Wessel H, Anderson S, Fite D, et al. (1997). "Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices". Invest. Ophthalmol. Vis. Sci. 38 (11): 2408–22. PMID9344363.
Chiquet M, Mumenthaler U, Wittwer M, et al. (1998). "The chick and human collagen alpha1(XII) gene promoter--activity of highly conserved regions around the first exon and in the first intron". Eur. J. Biochem. 257 (2): 362–71. doi:10.1046/j.1432-1327.1998.2570362.x. PMID9826181.
Trächslin J, Koch M, Chiquet M (1999). "Rapid and reversible regulation of collagen XII expression by changes in tensile stress". Exp. Cell Res. 247 (2): 320–8. doi:10.1006/excr.1998.4363. PMID10066359.
Saika S, Miyamoto T, Tanaka T, et al. (2002). "Collagens XII and XIV (FACITs) in capsular opacification and in cultured lens epithelial cells". Curr. Eye Res. 23 (6): 463–8. doi:10.1076/ceyr.23.6.463.6971. PMID12045897. S2CID41275312.
Thierry L, Geiser AS, Hansen A, et al. (2005). "Collagen types XII and XIV are present in basement membrane zones during human embryonic development". J. Mol. Histol. 35 (8–9): 803–10. doi:10.1007/s10735-004-1132-y. PMID15609093. S2CID30409158.