Large1 LARGE xylosyl- and glucuronyltransferase 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 16795)
Source: NCBI Gene (ID 16795)
Symbol: Large1
Full name: LARGE xylosyl- and glucuronyltransferase 1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: BPFD#36; Gyltl1a; Large; Mbp-1; Mbp1; enr; fg; froggy; myd
Summary: 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]
Expression: Broad expression in cortex adult (RPKM 16.0), frontal lobe adult (RPKM 14.9) and 24 other tissues
Orthologs: human
Gene size: 539054bp
Exon count: 17