GALC Antibody (PACO19692)
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주문- SKU:
- PACO19692
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | GALC Antibody (PACO19692) |
Antibody SKU: | PACO19692 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | ELISA:1:1000-1:2000, WB:1:200-1:1000 |
Species Reactivity: | Human, Mouse |
Immunogen: | Synthetic peptide of human GALC |
Form: | Liquid |
Storage Buffer: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Purification Method: | Antigen affinity purification |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane: Mouse brain tissue, Primary antibody: PACO19692(GALC Antibody) at dilution 1/200, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 1 minute. |
Background: | 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. |
Synonyms: | galactosylceramidase |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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: galactosylceramide catabolic process; glycosphingolipid metabolic process Disease: Krabbe Disease |
NCBI Summary: | 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 Code: | P54803 |
NCBI GenInfo Identifier: | 1035664365 |
NCBI Gene ID: | 2581 |
NCBI Accession: | P54803.3 |
UniProt Secondary Accession: | P54803,Q8J030, B4DKE8, B4DYN1, B4DZJ8, B7Z7Z2, J3KN25 J3KPP8, |
UniProt Related Accession: | P54803 |
Molecular Weight: | 67,184 Da |
NCBI Full Name: | Galactocerebrosidase |
NCBI Synonym Full Names: | galactosylceramidase |
NCBI Official Symbol: | GALC |
NCBI Protein Information: | galactocerebrosidase |
UniProt Protein Name: | Galactocerebrosidase |
UniProt Synonym Protein Names: | Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase |
Protein Family: | Galactocerebrosidase |
UniProt Gene Name: | GALC |
UniProt Entry Name: | GALC_HUMAN |
Antibodies | ELISA Kits |
Anti-GALC Antibody (CAB3873) | Human GALC / Galactocerebrosidase ELISA Kit |
GALC Antibody (PACO09396) | Human Galactocerebrosidase (GALC) ELISA Kit |
Secondary Antibody |
Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014) |
Recommended Products |
Anti-FITC Goat Anti-Rabbit IgG (H+L) Antibody (CABS011) |
Anti-HRP-conjugated Beta Actin Antibody (CABC028) |