LMPD Database

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LMP006556

UniProt Annotations

Entry Information
Gene Nameglucosidase beta 2
Protein EntryGBA2_MOUSE
UniProt IDQ69ZF3
SpeciesMouse
Comments
Comment typeDescription
Catalytic ActivityD-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine. {ECO:0000269|PubMed:23250757}.
Disruption PhenotypeMice have a normal bile acid metabolism but males exhibit impaired fertility due to glucosylceramides accumulation. {ECO:0000269|PubMed:17080196}.
Enzyme RegulationEnzymatic activity is dependent on membrane association and requires the presence of lipids. {ECO:0000269|PubMed:23250757}.
FunctionNon-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development (By similarity). Required for proper formation of motor neuron axons (By similarity). {ECO:0000250}.
Sequence CautionSequence=BAD32491.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the non-lysosomal glucosylceramidase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:23250757}; Peripheral membrane protein {ECO:0000269|PubMed:23250757}; Cytoplasmic side {ECO:0000269|PubMed:23250757}. Golgi apparatus membrane {ECO:0000269|PubMed:23250757}; Peripheral membrane protein {ECO:0000269|PubMed:23250757}; Cytoplasmic side {ECO:0000269|PubMed:23250757}. Note=Not localized to lipid rafts. {ECO:0000250}.
Tissue SpecificityWidely expressed at low level. Highly expressed in testis and brain. {ECO:0000269|PubMed:17080196, ECO:0000269|PubMed:23250757}.