GALC Antibody – Mouse Monoclonal

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]

Function: 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.

Catalytic activity: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.

Subcellular location: Lysosome.

Tissue specificity: Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.

Polymorphism: Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Involvement in disease: Leukodystrophy, globoid cell (GLD) [MIM:245200]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21

Sequence similarities: Belongs to the glycosyl hydrolase 59 family.

Caution: It is uncertain whether Met-1 or Met-17 is the initiator.

Biophysicochemical propertiespH dependence:Optimum pH is 4.0-4.4.Temperature dependence:Activity is lost after heating at 52 degrees Celsius for five minutes.

Sequence caution: The sequence AAA16645.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence AAA80975.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence AAH36518.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAA04971.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAA04972.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAA04972.1 differs from that shown. Reason: Probable intron retention.The sequence BAA24902.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAG59160.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.