antibody

Galc Rabbit Polyclonal

MBS769537

0.1 mg

265 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat

western blot, ELISA, immunohistochemistry, enzyme immunoassay

Antibody

Galc Rabbit Polyclonal

[Galc]

[galactocerebrosidase isoform a; Galactocerebrosidase; galactocerebrosidase; galactosylceramidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase]

[Galc]

[GALC; GALC; GALCERase]

GALC_HUMAN

Polyclonal

IgG

Rabbit

Human, Mouse, Rat

685

Please decide the specificity by homology.

>=95% as determined by SDS-PAGE. Immunogen Affinity Purified

Liquid

PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

WB: 1:500 - 1:2000; IHC: 1:50 - 1:100

Immunohistochemistry

SDS-PAGE

Immunogen: Galactosylceramidase

83281450

NP_000144.2

NM_000153.3

77kDa

Glycosphingolipid Metabolism Pathway (1270099); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolic Pathways (132956); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Sphingolipid Metabolism Pathway (82994); Sphingolipid Metabolism Pathway (1270097); Sphingolipid Metabolism Pathway (369)

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]

GALC: 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. Defects in GALC are the cause of leukodystrophy globoid cell (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. Belongs to the glycosyl hydrolase 59 family. 4 isoforms of the human protein are produced by alternative splicing. Protein type: Lipid Metabolism - sphingolipid; EC 3.2.1.46; Hydrolase. Chromosomal Location of Human Ortholog: 14q31. Cellular Component: lysosomal lumen; lysosome. Molecular Function: galactosylceramidase activity. Biological Process: carbohydrate metabolic process; galactosylceramide catabolic process; glycosphingolipid metabolic process. Disease: Krabbe Disease

0.1 mg

265 USD