Call Now

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]