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Protein Coding Gene : Ugt8a UDP galactosyltransferase 8A
Primary Identifier  MGI:109522 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  22239
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable N-acylsphingosine galactosyltransferase activity and UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity. Involved in cytoskeleton organization; nervous system development; and protein localization to paranode region of axon. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain. Orthologous to human UGT8 (UDP glycosyltransferase 8).
PHENOTYPE: Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. [provided by MGI curators]
  • synonyms:
  • Ugt8a,
  • UDP-galactose ceramide galactosyltransferase,
  • UDP galactosyltransferase 8A,
  • MGI:2139983,
  • expressed sequence AI850488,
  • MGI:2139820,
  • Ugt8,
  • Cgt,
  • MGD-MRK-39521,
  • AW455908,
  • UDP glucuronosyltransferase 8,
  • AI850488,
  • mCerGT,
  • expressed sequence AW455908,
  • MGD-MRK-36113
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2 Involved In Mutations

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Genes --> Homologs

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5 Pathways

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Phenotype

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Disease

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