GALC
Function
Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). 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 (PubMed:8281145, PubMed:8399327).
Involvement in disease
Krabbe disease
KRB
An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests 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. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the glycosyl hydrolase 59 family.
Tissue Specificity
Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
Cellular localization
- Lysosome
Alternative names
Galactocerebrosidase, GALCERase, Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase, GALC