The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

GALC  -  galactosylceramidase

Homo sapiens

Synonyms: GALCERase, Galactocerebrosidase, Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of GALC


High impact information on GALC


Chemical compound and disease context of GALC


Biological context of GALC

  • The mild clinical phenotype was likely to be associated with the 809G>A, since residual GALC activity, about 17% of the control activity, was detected in the expression studies of this mutation [13].
  • Since material suitable for mutation analysis was no longer available from the proband, her GALC genotype was reconstructed by analyzing this gene in her six obligate carrier offspring [13].
  • Recently we cloned the full-length human GALC cDNA using amino acid sequence information obtained from GALC purified from human urine and brain [14].
  • Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC [8].
  • Additional support for close linkage of GALC and D14S48 comes from the apparent linkage disequilibrium between these two loci in a consanguineous Druze community in Israel. These data localize GALC to 14q24.3-q32.1 [8].

Anatomical context of GALC


Associations of GALC with chemical compounds

  • Galactocerebrosidase (GALC) activity is deficient in all patients with globoid cell leukodystrophy (GLD) [1].
  • The Moslem Arabs were homozygous for two mutations in the GALC gene; a T-to-C transition at CDNA position 1637 (counting from the A of the initiation codon), which is considered a polymorphism and a G-to-A transition at position 1582, which changes the codon for aspartic acid to one for asparagine [16].
  • Anisomycin, emetine and puromycin, inhibitors of NMD, effectively increased the level of GALC transcript in the TwS1 cells providing further support for nonsense-mediated mRNA decay being the mechanism by which no GALC protein is detected in these animals [17].
  • Mannose-6-phosphate receptor-mediated uptake was only partially responsible for the efficient transfer of GALC to neighboring cells [18].
  • After preliminary studies determined what effect each amino acid change had on mouse GALC activity in transient transfection experiments, mice containing a cysteine residue at codon 168 instead of histidine (H168C) were produced [19].

Co-localisations of GALC


Other interactions of GALC


Analytical, diagnostic and therapeutic context of GALC

  • The isolation of this clone will permit investigations into the causes for GALC deficiency in humans and available animal models, development of more accurate tests for patient and carrier identification, and evaluation of methods for effectively treating GALC deficiency, initially using the animal models [9].
  • We describe the molecular cloning of human GALC cDNA and its expression in COS-1 cells [9].
  • Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization [24].
  • In addition, gel filtration of partially purified GALC after disassociation showed one peak of activity estimated to have a molecular mass near 50 kDa [25].
  • Using either immunocytochemical approaches or Western blot methodology, we have been unable to detect the truncated form of GALC expected to be produced in these animals [17].


  1. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Rafi, M.A., Luzi, P., Chen, Y.Q., Wenger, D.A. Hum. Mol. Genet. (1995) [Pubmed]
  2. Molecular heterogeneity of Krabbe disease. Fu, L., Inui, K., Nishigaki, T., Tatsumi, N., Tsukamoto, H., Kokubu, C., Muramatsu, T., Okada, S. J. Inherit. Metab. Dis. (1999) [Pubmed]
  3. Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Hoogerbrugge, P.M., Suzuki, K., Suzuki, K., Poorthuis, B.J., Kobayashi, T., Wagemaker, G., van Bekkum, D.W. Science (1988) [Pubmed]
  4. Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. Dolcetta, D., Perani, L., Givogri, M.I., Galbiati, F., Amadio, S., Del Carro, U., Finocchiaro, G., Fanzani, A., Marchesini, S., Naldini, L., Roncarolo, M.G., Bongarzone, E. The journal of gene medicine. (2006) [Pubmed]
  5. Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). Shen, J.S., Watabe, K., Meng, X.L., Ida, H., Ohashi, T., Eto, Y. J. Neurosci. Res. (2002) [Pubmed]
  6. Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. Hoogerbrugge, P.M., Poorthuis, B.J., Romme, A.E., van de Kamp, J.J., Wagemaker, G., van Bekkum, D.W. J. Clin. Invest. (1988) [Pubmed]
  7. Inhibition of cytokinesis by a lipid metabolite, psychosine. Kanazawa, T., Nakamura, S., Momoi, M., Yamaji, T., Takematsu, H., Yano, H., Sabe, H., Yamamoto, A., Kawasaki, T., Kozutsumi, Y. J. Cell Biol. (2000) [Pubmed]
  8. Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Oehlmann, R., Zlotogora, J., Wenger, D.A., Knowlton, R.G. Am. J. Hum. Genet. (1993) [Pubmed]
  9. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Chen, Y.Q., Rafi, M.A., de Gala, G., Wenger, D.A. Hum. Mol. Genet. (1993) [Pubmed]
  10. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Harzer, K., Knoblich, R., Rolfs, A., Bauer, P., Eggers, J. Clin. Chim. Acta (2002) [Pubmed]
  11. Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. Kobayashi, T., Shinnoh, N., Goto, I., Kuroiwa, Y. J. Biol. Chem. (1985) [Pubmed]
  12. Use of mixed dispersion of fluorescent galactosylceramide and sodium dodecylsulfate for assaying galactosylceramide-beta-galactosidase and diagnosing Krabbe disease. Salvayre, R., Gatt, S. Enzyme (1985) [Pubmed]
  13. Molecular basis of late-life globoid cell leukodystrophy. De Gasperi, R., Gama Sosa, M.A., Sartorato, E., Battistini, S., Raghavan, S., Kolodny, E.H. Hum. Mutat. (1999) [Pubmed]
  14. Structure and organization of the human galactocerebrosidase (GALC) gene. Luzi, P., Rafi, M.A., Wenger, D.A. Genomics (1995) [Pubmed]
  15. Krabbe disease: genetic aspects and progress toward therapy. Wenger, D.A., Rafi, M.A., Luzi, P., Datto, J., Costantino-Ceccarini, E. Mol. Genet. Metab. (2000) [Pubmed]
  16. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Rafi, M.A., Luzi, P., Zlotogora, J., Wenger, D.A. Hum. Genet. (1996) [Pubmed]
  17. Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). Lee, W.C., Tsoi, Y.K., Dickey, C.A., Delucia, M.W., Dickson, D.W., Eckman, C.B. Neurobiol. Dis. (2006) [Pubmed]
  18. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Rafi, M.A., Fugaro, J., Amini, S., Luzi, P., de Gala, G., Victoria, T., Dubell, C., Shahinfar, M., Wenger, D.A. Biochem. Mol. Med. (1996) [Pubmed]
  19. Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Luzi, P., Rafi, M.A., Zaka, M., Curtis, M., Vanier, M.T., Wenger, D.A. Mol. Genet. Metab. (2001) [Pubmed]
  20. Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction. Luddi, A., Volterrani, M., Strazza, M., Smorlesi, A., Rafi, M.A., Datto, J., Wenger, D.A., Costantino-Ceccarini, E. Neurobiol. Dis. (2001) [Pubmed]
  21. Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Jardim, L.B., Giugliani, R., Pires, R.F., Haussen, S., Burin, M.G., Rafi, M.A., Wenger, D.A. Arch. Neurol. (1999) [Pubmed]
  22. Quantification of cellular acid sphingomyelinase and galactocerebroside beta-galactosidase activities by electrospray ionization mass spectrometry. Zhou, X., Turecek, F., Scott, C.R., Gelb, M.H. Clin. Chem. (2001) [Pubmed]
  23. Lead alters the developmental profile of the galactolipid metabolic enzymes in cultured oligodendrocyte lineage cells. Deng, W., Poretz, R.D. Neurotoxicology (2001) [Pubmed]
  24. Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cannizzaro, L.A., Chen, Y.Q., Rafi, M.A., Wenger, D.A. Cytogenet. Cell Genet. (1994) [Pubmed]
  25. Galactocerebrosidase from human urine: purification and partial characterization. Chen, Y.Q., Wenger, D.A. Biochim. Biophys. Acta (1993) [Pubmed]
WikiGenes - Universities