LMPD Database

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LMP002458

UniProt Annotations

Entry Information
Gene Namegalactosylceramidase
Protein EntryGALC_MOUSE
UniProt IDP54818
SpeciesMouse
Comments
Comment typeDescription
Catalytic ActivityD-galactosyl-N-acylsphingosine + H(2)O = D- galactose + N-acylsphingosine. {ECO:0000269|PubMed:8769874}.
CautionIt is uncertain whether Met-1 or Met-17 is the initiator. {ECO:0000305}.
DiseaseNote=Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin.
FunctionHydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. {ECO:0000269|PubMed:8769874}.
Sequence CautionSequence=AAB71823.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH86671.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA07560.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the glycosyl hydrolase 59 family. {ECO:0000305}.
Subcellular LocationLysosome {ECO:0000250}.
Tissue SpecificityDetected in brain and kidney. {ECO:0000269|PubMed:8769874}.