免 疫 原：KLH conjugated synthetic peptide derived from human Galactosylceramidase
抗原表位：211-320/685
SWISS：P54803
Gene ID ：2581
Human Gene ID：2581

GALC is a lysosomal enzyme that hydrolyzes galactose ester bonds in various galactolipids, including galactosylceramide, galactosylsphingosine, lactosylceramide and monogalactosyldiglyceride. Galactolipids contain glucose and/or galactose, and are found in the brain and other nerve tissue, especially the myelin sheath. Galactosylceramide is a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon. Mutations in the GALC gene that compromise protein function correlate to Krabbe disease (globoid cell leukodystrophy, GLD). GLD is an autosomal recessive condition that affects approximately 1 in 150,000 infants and results in progressive destruction of the nervous system. The “twitcher” mouse is a model system for GLD; the genotype is a premature stop codon (W339X) in the galactosylceramidase (GALC) gene that abolishes enzymatic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Function：Galactosylceramidase hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. It is an enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide,
Subcellular Location：Lysosomal.
Tissue Specificity：Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.
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
Similarity：Belongs to the glycosyl hydrolase 59 family.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.