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| Cat.No | ACP09192 | Target Name | GALC |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 43-685 | Protein Length | Full Length of Mature Protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P54803 |
|---|
Uniprot Id
P54803
Target Species
Human
Target Name
GALC
Target Full Name
Galactocerebrosidase
Target Function
Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine. 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.
Target Involvement
Leukodystrophy, globoid cell (GLD)
Target Subcellular Location
Lysosome.
Target Protein Families
Glycosyl hydrolase 59 family
Target Tissue Specificity
Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
Target Research Area
Cardiovascular
Target Synonyms
Gacy; Galactocerebrosidase; Galactocerebroside beta galactosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta galactosidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALC; GALC_HUMAN; GALCERase; Twitcher
Target 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.
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