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Protein Coding Gene : B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1

Primary Identifier  MGI:1342057 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  14421
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Acts upstream of or within several processes, including determination of adult lifespan; lipid storage; and motor behavior. Predicted to be located in Golgi membrane. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 26. Orthologous to human B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1).
PHENOTYPE: Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. [provided by MGI curators]
  • synonyms:
  • GalNAc-T,
  • Galgt1,
  • UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1,4-Nacetylgalactosaminytransferase,
  • GM2/GD2 synthase,
  • Ggm-2,
  • beta-1,4-N-acetyl-galactosaminyl transferase 1,
  • Ggm2,
  • MGI:95703,
  • UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase,
  • beta1,4GalNAC-T,
  • MGI:1918507,
  • B4galnt1,
  • MGD-MRK-10061,
  • RIKEN cDNA 4933429D13 gene,
  • MGD-MRK-10063,
  • Gal-NAc-T,
  • GalNAcT,
  • ganglioside expression 2,
  • 4933429D13Rik

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