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Protein Page:
GALC (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Hydrolase; EC 3.2.1.46; Lipid Metabolism - sphingolipid
Cellular Component: lysosomal lumen; lysosome
Molecular Function: galactosylceramidase activity
Biological Process: sphingolipid metabolic process; carbohydrate metabolic process; glycosphingolipid metabolic process; galactosylceramide catabolic process
Reference #:  P54803 (UniProtKB)
Alt. Names/Synonyms: Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALC; GALCERase
Gene Symbols: GALC
Molecular weight: 77,033 Da
Basal Isoelectric point: 6.17  Predict pI for various phosphorylation states
Select Structure to View Below

GALC

Protein Structure Not Found.


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