NP_000144.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
74.8 kDa
NCBI Official Full Name
galactocerebrosidase isoform a
NCBI Official Synonym Full Names
galactosylceramidase
NCBI Protein Information
galactocerebrosidase
UniProt Protein Name
Galactocerebrosidase
UniProt Synonym Protein Names
Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase
UniProt Synonym Gene Names
NCBI Summary for GALC
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
UniProt Comments for GALC
Hydrolyzes 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.
Research Articles on GALC
Precautions
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Disclaimer
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Products associated with GALC recombinant protein
Pathways associated with GALC recombinant protein
Diseases associated with GALC recombinant protein
Organs/Tissues associated with GALC recombinant protein
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