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ribitol-5-phosphate xylosyltransferase 1, and related proteins Ribitol-5-phosphate xylosyltransferase 1 (RXYLT1, also known as transmembrane protein 5, TMEM5) is a transmembrane protein which acts as a UDP-d-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase in the biosynthetic pathway of O-mannosyl glycan. RXYLT1 catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan. O-mannosyl glycan is present in a number of glycoproteins, including alpha-dystroglycan. The TMEM5 gene has been associated with alpha-dystroglycanopathies, a diverse group of neuromuscular disorders caused by aberrant O-mannosylation of alpha-dystroglycan. |
Jiyao W et al.(2023). "The conserved domain database in 2023.",