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Protein Coding Gene : Glb1 galactosidase, beta 1
Primary Identifier  MGI:88151 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  12091
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables beta-galactosidase activity. Predicted to be involved in galactose catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including alimentary system; cranium; genitourinary system; nervous system; and respiratory system. Used to study GM1 gangliosidosis. Human ortholog(s) of this gene implicated in GM1 gangliosidosis (multiple) and mucopolysaccharidosis IV (multiple). Orthologous to human GLB1 (galactosidase beta 1).
PHENOTYPE: Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age. [provided by MGI curators]
  • synonyms:
  • beta-galactosidase electrophoretic,
  • MGI:88152,
  • Bgl,
  • galactosidase, beta 1,
  • MGI:88153,
  • MGD-MRK-1547,
  • Bgs,
  • MGD-MRK-1545,
  • MGI:2143293,
  • Glb1,
  • beta-galactosidase complex,
  • Bgl-e,
  • MGD-MRK-1557,
  • Bgl-s,
  • expressed sequence AW125515,
  • Bgl-t,
  • C130097A14Rik,
  • AW125515,
  • MGD-MRK-1556,
  • MGI:88154,
  • RIKEN cDNA C130097A14 gene,
  • Bgt,
  • Bge,
  • MGD-MRK-1549,
  • beta-galactosidase systemic regulator,
  • beta-galactosidase temporal,
  • MGD-MRK-1548,
  • MGD-MRK-1546
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