Large1 - LARGE xylosyl- and glucuronyltransferase 1

Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle organ development. Located in intracellular membrane-bounded organelle. Is expressed in nervous system and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B6. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]