B4GAT1 gene

beta-1,4-glucuronyltransferase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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 LARGE, 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).

From NCBI Gene:

  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13

From UniProt:

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [MIM:615287]

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2

Molecular Location: base pairs 66,345,372 to 66,347,690 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2
  • B3GN-T1
  • B3GNT1
  • B3GNT6
  • BETA3GNTI
  • iGAT
  • iGNT
  • MDDGA13