NP_001188330.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
67,184 Da
NCBI Official Full Name
galactocerebrosidase isoform c
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
UniProt Entry Name
GALC_HUMAN
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
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. Defects in GALC are the cause of leukodystrophy globoid cell (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified. Belongs to the glycosyl hydrolase 59 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - sphingolipid; EC 3.2.1.46; Hydrolase
Chromosomal Location of Human Ortholog: 14q31
Cellular Component: lysosomal lumen; lysosome
Molecular Function: galactosylceramidase activity
Biological Process: carbohydrate metabolic process; galactosylceramide catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process
Disease: Krabbe Disease
Research Articles on GALC
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Products associated with GALC elisa kit
Pathways associated with GALC elisa kit
Diseases associated with GALC elisa kit
Organs/Tissues associated with GALC elisa kit
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