LARGE1

Description		LARGE xylosyl- and glucuronyltransferase 1
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Integral Component Of Golgi Membrane
	Molecular Function	Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity, Transferring Glycosyl Groups Manganese Ion Binding UDP-xylosyltransferase Activity Xylosyltransferase Activity
	Biological Process	N-acetylglucosamine Metabolic Process Protein Glycosylation Protein O-linked Glycosylation Glycosphingolipid Biosynthetic Process Glycoprotein Biosynthetic Process Protein O-linked Mannosylation Skeletal Muscle Tissue Regeneration Muscle Cell Cellular Homeostasis Skeletal Muscle Organ Development
Pathways		Defective LARGE causes MDDGA6 and MDDGB6 O-linked glycosylation
Drugs
Diseases		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D)
GWAS		Age at first birth ( 27798627) Type 2 diabetes ( 29926116)
Novel Interacting Genes		1 novel interacting genes: DNAH5
Interacting Genes
Entrez ID		9215
HPRD ID		04665
Ensembl ID		ENSG00000133424
Uniprot IDs		O95461 X5DR28
PDB IDs
Enriched GO Terms of Interacting Partners?
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