| Structural highlights
Disease
GT251_HUMAN Familial porencephaly. The disease is caused by variants affecting the gene represented in this entry.
Function
GT251_HUMAN Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317).[1] [2] [3] [4]
References
- ↑ Schegg B, Hülsmeier AJ, Rutschmann C, Maag C, Hennet T. Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases. Mol Cell Biol. 2009 Feb;29(4):943-52. PMID:19075007 doi:10.1128/MCB.02085-07
- ↑ Perrin-Tricaud C, Rutschmann C, Hennet T. Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1. PLoS One. 2011;6(12):e29390. PMID:22216269 doi:10.1371/journal.pone.0029390
- ↑ Baumann S, Hennet T. Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase. J Biol Chem. 2016 Aug 26;291(35):18514-24. PMID:27402836 doi:10.1074/jbc.M116.723379
- ↑ Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018 Dec;84(6):843-853. PMID:30412317 doi:10.1002/ana.25367
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