Galactosylceramidase
Galactosylceramidase (or galactocerebrosidase) is an enzyme that in humans is encoded by the GALC gene.[1][2] Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives (galactocerebrosides).
Galactosylceramidase is a lysosomal protein which hydrolyzes the galactose ester bonds of galactocerebroside, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1] Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.[1]
References
Further reading
- Lee WC, Kang D, Causevic E et al. (2010). "Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.". J. Neurosci. 30 (16): 5489–97. doi:10.1523/JNEUROSCI.6383-09.2010. PMC 3278277. PMID 20410102.
- Wenger DA, Rafi MA, Luzi P (1997). "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.". Hum. Mutat. 10 (4): 268–79. doi:10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID 9338580.
- De Gasperi R, Gama Sosa MA, Sartorato EL et al. (1996). "Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.". Am. J. Hum. Genet. 59 (6): 1233–42. PMC 1914878. PMID 8940268.
- Tappino B, Biancheri R, Mort M et al. (2010). "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.". Hum. Mutat. 31 (12): E1894–914. doi:10.1002/humu.21367. PMC 3052420. PMID 20886637.
- Formichi P, Radi E, Battisti C et al. (2007). "Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.". J. Cell. Physiol. 212 (3): 737–43. doi:10.1002/jcp.21070. PMID 17458901.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Franke A, McGovern DP, Barrett JC et al. (2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.". Nat. Genet. 42 (12): 1118–25. doi:10.1038/ng.717. PMC 3299551. PMID 21102463.
- Wenger DA, Rafi MA, Luzi P et al. (2000). "Krabbe disease: genetic aspects and progress toward therapy.". Mol. Genet. Metab. 70 (1): 1–9. doi:10.1006/mgme.2000.2990. PMID 10833326.
- Lissens W, Arena A, Seneca S et al. (2007). "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 (7): 742. doi:10.1002/humu.9500. PMID 17579360.
- Beier UH, Görögh T (2005). "Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.". Int. J. Cancer 115 (1): 6–10. doi:10.1002/ijc.20851. PMID 15657896.
- Xu C, Sakai N, Taniike M et al. (2006). "Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.". J. Hum. Genet. 51 (6): 548–54. doi:10.1007/s10038-006-0396-3. PMID 16607461.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- De Gasperi R, Gama Sosa MA, Sartorato E et al. (1999). "Molecular basis of late-life globoid cell leukodystrophy.". Hum. Mutat. 14 (3): 256–62. doi:10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. PMID 10477434.
- Furuya H, Kukita Y, Nagano S et al. (1997). "Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.". Hum. Genet. 100 (3-4): 450–6. doi:10.1007/s004390050532. PMID 9272171.
- Fu L, Inui K, Nishigaki T et al. (1999). "Molecular heterogeneity of Krabbe disease.". J. Inherit. Metab. Dis. 22 (2): 155–62. doi:10.1023/A:1005449919660. PMID 10234611.
- Sakai N, Fukushima H, Inui K et al. (1998). "Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.". Biochim. Biophys. Acta 1395 (1): 62–7. doi:10.1016/S0167-4781(97)00140-1. PMID 9434153.
- Harzer K, Knoblich R, Rolfs A et al. (2002). "Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.". Clin. Chim. Acta 317 (1-2): 77–84. doi:10.1016/S0009-8981(01)00791-4. PMID 11814461.
- Flachsbart F, Franke A, Kleindorp R et al. (2010). "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.". Mutat. Res. 694 (1-2): 13–9. doi:10.1016/j.mrfmmm.2010.08.006. PMID 20800603.
- Strausberg RL, Feingold EA, Grouse LH et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hendrickson SL, Lautenberger JA, Chinn LW et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.". PLoS ONE 5 (9): e12862. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
External links
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| | Sphingolipid | |
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| | NCL | |
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| | Ceramide synthesis | |
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| | Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| | Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| | Treatment | |
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