Ribitol-5-phosphate xylosyltransferase 1 (RXYLT1)

Ribitol-5-phosphate xylosyltransferase 1 (RXYLT1) is a type II transmembrane enzyme located in the Golgi apparatus that functions as a glycosyltransferase, specifically transferring xylose from UDP-D-xylose to ribitol-5-phosphate to form the Xylβ1-4Rbo5P linkage in core M3 O-mannosyl glycans on α-dystroglycan[1][2][4]. This post-translational modification is crucial for the assembly of the laminin-binding glycoepitope matriglycan, which enables α-dystroglycan to anchor muscle and neural cells to the extracellular matrix, maintaining tissue stability and signaling[1][7]. Mutations in RXYLT1 disrupt this process, leading to a class of congenital muscular dystrophies termed α-dystroglycanopathies, many of which present with structural brain abnormalities and severe muscle weakness[1][2]. RXYLT1 is essential for normal glycosylation of α-dystroglycan and is categorized within the glycosyltransferase family of enzymes[1][3][6].

Other names

TMEM5HP10481Transmembrane protein 5MDDGA10UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase

Not applicable (no drugs described as directly targeting RXYLT1)