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Protein Coding Gene : B4gat1 beta-1,4-glucuronyltransferase 1

Primary Identifier  MGI:1919680 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  108902
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable glucuronosyltransferase activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and thymus. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A13. Orthologous to human B4GAT1 (beta-1,4-glucuronyltransferase 1).
PHENOTYPE: Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers. Mice homozygous for a hypomorphic allele exhibit mild muscular dystrophy, abnormal axon guidance and fasciculation and abnormal dorsal funiculus. [provided by MGI curators]
  • synonyms:
  • B4gat1,
  • B3gnt1,
  • 1500032M01Rik,
  • UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1,
  • RIKEN cDNA 1500032M01 gene,
  • iGNT,
  • B3gnt6,
  • UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6,
  • beta-1,4-glucuronyltransferase 1,
  • BETA3GNT1

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