Recombinant Human GALC cell lysate

• Cat.No.: GALC-679HCL

Specification

• 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.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot
• Tag: Non

Gene Information

• Gene Name: GALC galactosylceramidase [ Homo sapiens ]
• Official Symbol: GALC
• Synonyms: GALC; galactosylceramidase; galactosylceramidase (Krabbe disease); galactocerebrosidase; Krabbe disease; GALCERase; galactosylceraminidase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase
• Gene ID: 2581
• mRNA Refseq: NM_000153
• Protein Refseq: NP_000144
• MIM: 606890
• UniProt ID: P54803
• Chromosome Location: 14q31
• Pathway: Glycosphingolipid metabolism, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Sphingolipid metabolism, organism-specific biosystem
• Function: cation binding; galactosylceramidase activity; hydrolase activity, acting on glycosyl bonds