GALC Antibody

Datasheet
Code CSB-PA009196GA01HU
Product Type Purified Rabbit Anti human PolyClonal Antibody
Size US$685
Uniprot No. P54803
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunogen Human GALC
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,WB
Storage Buffer PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method Antigen Affinity purified
Isotype IgG
Alias 668aa,76kd;
Immunogen Species Homo sapiens (Human)
Target Names GALC
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Target Details 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.
HGNC 4115
RGD 1359384
MGI 95636
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Function 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.
Involvement in disease Leukodystrophy, globoid cell (GLD)
Subcellular Location Lysosome
Protein Families Glycosyl hydrolase 59 family
Tissue Specificity Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
Database Links

HGNC: 4115

OMIM: 245200

KEGG: hsa:2581

STRING: 9606.ENSP00000261304

UniGene: Hs.513439

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