KLH conjugated synthetic peptide derived from human Galactosylceramidase:211-320/685
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host：
Rabbit
Product Overview：
Sample: Lane 1: Human HUVEC cell Lysates Lane 2: Human U-2 OScell Lysates Primary: Anti-Galactosylceramidase (SL20477R) at 1/1000 dilutionSecondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilutionPredicted band size: 73kDaObserved band size: 73kDaParaformaldehyde-fixed, paraffin embedded (rat liver tissue); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Galactosylceramidase) Polyclonal Antibody, Unconjugated (SL20477R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. It shows highest level of activity in testes compared to brain, kidney, placenta and liver. It can also be found in urine. Defects in Galactosylceramidase are the cause of globoid cell leukodystrophy (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.
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 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.
Similarity: Belongs to the glycosyl hydrolase 59 family.
Sample:
Lane 1: Human HUVEC cell Lysates
Lane 2: Human U-2 OScell Lysates
Primary: Anti-Galactosylceramidase (SL20477R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 73kDa
Observed band size: 73kDa
Paraformaldehyde-fixed, paraffin embedded (rat liver tissue); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Galactosylceramidase) Polyclonal Antibody, Unconjugated (SL20477R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
