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Galactosylceramidase (GALC)

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Galactocerebrosidase; Krabbe Disease; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase

Galactosylceramidase (GALC)
CCC G608
HGNC 4115
MGI 95636
PubMed 14572137
RGD 1359384
UniProt P54803
Wiki GALC
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)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG608Hu01 Recombinant Galactosylceramidase (GALC) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG608Hu01 Polyclonal Antibody to Galactosylceramidase (GALC) WB; IHC; ICC; IP.
LAG608Hu71 Biotin-Linked Polyclonal Antibody to Galactosylceramidase (GALC) WB; IHC; ICC.
Assay Kits SEG608Hu ELISA Kit for Galactosylceramidase (GALC) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Galactosylceramidase (GALC) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Galactosylceramidase (GALC) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Galactosylceramidase (GALC) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Galactosylceramidase (GALC) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosylceramidase (GALC) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG608Ra01 Recombinant Galactosylceramidase (GALC) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG608Ra01 Polyclonal Antibody to Galactosylceramidase (GALC) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosylceramidase (GALC) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosylceramidase (GALC) ELISA Kit Customized Service Offer
  1. "Structure and organization of the human galactocerebrosidase (GALC) gene."Genomics 26:407-409(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization."Biochim. Biophys. Acta 1395:62-67(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "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]
  7. "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]
  8. "Galactocerebrosidase from human urine: purification and partial characterization."Biochim. Biophys. Acta 1170:53-61(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications."Hum. Mutat. 10:268-279(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Krabbe disease: genetic aspects and progress toward therapy."Mol. Genet. Metab. 70:1-9(2000) [PubMed] [Europe PMC] [Abstract]
  11. "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]
  12. "Molecular defects in Krabbe disease."Hum. Mol. Genet. 4:1865-1868(1995) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy."Am. J. Hum. Genet. 59:1233-1242(1996) [PubMed] [Europe PMC] [Abstract]
  14. ErratumAm. J. Hum. Genet. 60:1264-1264(1997)
  15. "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]
  16. "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]
  17. "Molecular basis of late-life globoid cell leukodystrophy."Hum. Mutat. 14:256-262(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Molecular heterogeneity of Krabbe disease."J. Inherit. Metab. Dis. 22:155-162(1999) [PubMed] [Europe PMC] [Abstract]
  19. "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]
  20. "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease."Hum. Mutat. 31:E1894-E1914(2010) [PubMed] [Europe PMC] [Abstract]
  21. "Four novel GALC gene mutations in two Chinese patients with Krabbe disease."Gene 519:381-384(2013) [PubMed] [Europe PMC] [Abstract]