Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1]
It is a lysosomal protein, encoded in humans by the GALC gene.[1][2] Mutations in this gene have been associated with Krabbe disease, also known as galactosylceramide lipidosis.[1]
References
- ^ a b c "Entrez Gene: galactosylceramidase".
- ^ Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939. S2CID 19511563.
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): 5489–5497. 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): 268–279. doi:10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID 9338580. S2CID 36148722.
- 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): 1233–1242. 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): E1894–1914. 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): 737–743. doi:10.1002/jcp.21070. PMID 17458901. S2CID 39182882.
- 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): 1118–1125. 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. S2CID 1705020.
- 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. S2CID 1013550.
- 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): 548–554. 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): 2121–2127. 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): 256–262. doi:10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. PMID 10477434. S2CID 27655.
- 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): 450–456. doi:10.1007/s004390050532. PMID 9272171. S2CID 22928816.
- Fu L, Inui K, Nishigaki T, et al. (1999). "Molecular heterogeneity of Krabbe disease". J. Inherit. Metab. Dis. 22 (2): 155–162. doi:10.1023/A:1005449919660. PMID 10234611. S2CID 24368901.
- 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): 62–67. 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): 13–19. 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): 16899–16903. Bibcode:2002PNAS...9916899M. 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. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
External links
- GeneReviews/NCBI/NIH/UW entry on Krabbe disease
- OMIM entries on Krabbe disease
- Galactosylceramidase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- PDBe-KB provides an overview of all the structure information available in the PDB for Mlouse Galactocerebrosidase
- ^ a b c GRCh38: Ensembl release 89: ENSG00000054983 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021003 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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