Aliases for B4GAT1 Gene
- Beta-1,4-Glucuronyltransferase 1 2 3 4 5
- N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 2 3 4
- UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 1 2 3 4
- UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 6 2 3
- I-Beta-1,3-N-Acetylglucosaminyltransferase 3 4
- Poly-N-Acetyllactosamine Extension Enzyme 3 4
- B3GNT1 3 4
- B3GNT6 3 4
External Ids for B4GAT1 Gene
Previous HGNC Symbols for B4GAT1 Gene
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
GeneCards Summary for B4GAT1 Gene
B4GAT1 (Beta-1,4-Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with B4GAT1 include Muscular Dystrophy-Dystroglycanopathy , Type A, 13 and Muscular Dystrophy-Dystroglycanopathy , Type A, 1. Among its related pathways are Metabolism of proteins and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is LARGE2.
UniProtKB/Swiss-Prot Summary for B4GAT1 Gene
Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).