|Positive WB detected in||human brain tissue|
|Positive IHC detected in||human gliomas tissue|
Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
|Positive IF detected in||SH-SY5Y cells|
|Western Blot (WB)||WB : 1:500-1:2000|
|Immunohistochemistry (IHC)||IHC : 1:20-1:200|
|Immunofluorescence (IF)||IF : 1:50-1:500|
|Sample-dependent, check data in validation data gallery|
51051-2-AP targets GALC in WB, IHC, IF,ELISA applications and shows reactivity with human, mouse samples.
|Tested Reactivity||human, mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||GALC fusion protein Ag0483|
|Calculated molecular weight||668 aa, 76 kDa|
|Observed molecular weight||30 kDa|
|GenBank accession number||BC036518|
|Gene ID (NCBI)||2581|
|Purification Method||Antigen affinity purification|
|Storage Buffer||PBS with 0.02% sodium azide and 50% glycerol pH 7.3.|
|Storage Conditions||Store at -20°C. Aliquoting is unnecessary for -20oC storage.|
Galactosylceramidase (Galc) is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon. The normal GALC mRNA encodes the 80 kDa precursor, which is processed into 50 and 30 kDa subunits. Mutation of GALC gene will lead to Krabbe disease (globoid cell leukodystrophy), an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous system due to an enzymatic defect of galactocerebrosidase. This antibody is specific to GALC.
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
J Hum Genet
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.