Rabbit Galc Polyclonal Antibody | anti-Galc antibody

Galc Rabbit Polyclonal

Cat. Num. AAA769539

• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: Galc; Polyclonal Antibody; Galc Rabbit Polyclonal; anti-Galc antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 685

• Applicable Applications for anti-Galc antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen: Galactosylceramidase
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human gliomas using MBS769539 (Galc antibody) at dilution of 1:50)

Western Blot (WB)

(mouse brain tissue were subjected to SDS PAGE followed by western blot with MBS769539 (Galc antibody) at dilution of 1:300)

NCBI and Uniprot Product Information

• NCBI GI #: 83281450
• NCBI GeneID: 2581
• NCBI Accession #: NP_000144.2
• NCBI GenBank Nucleotide #: NM_000153.3
• Molecular Weight: 67,184 Da
• NCBI Official Full Name: galactocerebrosidase isoform a
• NCBI Official Synonym Full Names: galactosylceramidase
• NCBI Official Symbol: GALC
• NCBI Protein Information: galactocerebrosidase
• UniProt Protein Name: Galactocerebrosidase
• Protein Family: Galactocerebrosidase
• UniProt Gene Name: GALC
• UniProt Synonym Gene Names: GALCERase
• UniProt Entry Name: GALC_HUMAN

NCBI Description

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]

Uniprot Description

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: Hydrolase; Lipid Metabolism - sphingolipid; EC 3.2.1.46

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