Galactosylceramidase (GALC)
Galactocerebrosidase; Krabbe Disease; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase
- Galactosylceramidase (EC 3.2.1.46) 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.
- Two overlapping clones containing the total protein coding region were obtained. The open reading frame codes for 669 amino acids, representing a protein with a molecular mass of approximately 73 kD.The cDNA encodes a single chain peptide with a 26-amino acid N-terminal signal peptide and 6 potential asparagine-linked glycosylation sites.The gene organization was nearly identical to that of the human gene, and the deduced amino acid sequence of monkey GALC was about 97%, 87%, and 83% identical to that in human, dog, and mouse, respectively.
Organism species: Homo sapiens (Human)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Hu01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Hu01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Hu01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Hu01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Hu01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Mu01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Mu01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Mu01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Mu01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Mu01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Ra01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Ra01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Ra01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Ra01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Ra01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Ca01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Ca01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Ca01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Ca01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Ca01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Po01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Po01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Po01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Po01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Po01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Bo01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Bo01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Bo01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Bo01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Bo01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Rb01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Rb01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Rb01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Rb01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Rb01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | RPQ196Mo01 | Recombinant Galactosylceramidase (GALC) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | MAQ196Mo01 | Monoclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IP. |
PAQ196Mo01 | Polyclonal Antibody to Galactosylceramidase (GALC) | WB; IHC; ICC; IF. | |
Assay Kits | CLQ196Mo01 | CLIA Kit for Galactosylceramidase (GALC) | CLIA assay for Antigen Detection |
ELQ196Mo01 | ELISA Kit for Galactosylceramidase (GALC) | Enzyme-linked immunosorbent assay for Antigen Detection |
Reference
"Structure and organization of the human galactocerebrosidase (GALC) gene."
Genomics 26:407-409(1995) [PubMed] [Europe PMC] [Abstract]
"Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization."
Biochim. Biophys. Acta 1395:62-67(1998) [PubMed] [Europe PMC] [Abstract]
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
"Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy."
Hum. Mol. Genet. 2:1841-1845(1993) [PubMed] [Europe PMC] [Abstract]
"Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase."
Biochem. Biophys. Res. Commun. 198:485-491(1994) [PubMed] [Europe PMC] [Abstract]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
"Galactocerebrosidase from human urine: purification and partial characterization."
Biochim. Biophys. Acta 1170:53-61(1993) [PubMed] [Europe PMC] [Abstract]
"Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications."
Hum. Mutat. 10:268-279(1997) [PubMed] [Europe PMC] [Abstract]
"Krabbe disease: genetic aspects and progress toward therapy."
Mol. Genet. Metab. 70:1-9(2000) [PubMed] [Europe PMC] [Abstract]
"A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease."
Hum. Mol. Genet. 4:1285-1289(1995) [PubMed] [Europe PMC] [Abstract]
"Molecular defects in Krabbe disease."
Hum. Mol. Genet. 4:1865-1868(1995) [PubMed] [Europe PMC] [Abstract]
"Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy."
Am. J. Hum. Genet. 59:1233-1242(1996) [PubMed] [Europe PMC] [Abstract]
Erratum
Am. J. Hum. Genet. 60:1264-1264(1997)
"Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel."
Hum. Genet. 97:304-308(1996) [PubMed] [Europe PMC] [Abstract]
"Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients."
Hum. Genet. 100:450-456(1997) [PubMed] [Europe PMC] [Abstract]
"Molecular basis of late-life globoid cell leukodystrophy."
Hum. Mutat. 14:256-262(1999) [PubMed] [Europe PMC] [Abstract]
"Molecular heterogeneity of Krabbe disease."
J. Inherit. Metab. Dis. 22:155-162(1999) [PubMed] [Europe PMC] [Abstract]
"A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region."
Hum. Mutat. 28:742-742(2007) [PubMed] [Europe PMC] [Abstract]
"Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease."
Hum. Mutat. 31:E1894-E1914(2010) [PubMed] [Europe PMC] [Abstract]
"Four novel GALC gene mutations in two Chinese patients with Krabbe disease."
Gene 519:381-384(2013) [PubMed] [Europe PMC] [Abstract]