功能： catalytic activity:D-galactosyl-N-acylsphingosine + H(2)O = D-galactose + N-acylsphingosine.,caution:It is uncertain whether Met-1 or Met-17 is the initiator.,disease:Defects in GALC are the cause of leukodystrophy globoid cell (GLD) [MIM:245200]; 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.,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.,online information:Krabbe disease website,polymorphism:Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.,similarity:Belongs to the glycosyl hydrolase 59 family.,tissue specificity:Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome.
组织表达： Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
功能： catalytic activity:D-galactosyl-N-acylsphingosine + H(2)O = D-galactose + N-acylsphingosine.,caution:It is uncertain whether Met-1 or Met-17 is the initiator.,disease:Defects in GALC are the cause of leukodystrophy globoid cell (GLD) [MIM:245200]; 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.,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.,online information:Krabbe disease website,polymorphism:Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.,similarity:Belongs to the glycosyl hydrolase 59 family.,tissue specificity:Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome.
组织表达： Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
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