Biology:Galactosylceramidase
From HandWiki
| Galactosylceramidase | |||||||||
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| Identifiers | |||||||||
| EC number | 3.2.1.46 | ||||||||
| CAS number | 9027-89-8 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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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
- ↑ 1.0 1.1 1.2 "Entrez Gene: galactosylceramidase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2581.
- ↑ "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. August 2007. doi:10.1096/fj.06-6169com. PMID 17403939. http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=17403939.
 Generic protein structure example |
Further reading
- "Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.". J. Neurosci. 30 (16): 5489–5497. 2010. doi:10.1523/JNEUROSCI.6383-09.2010. PMID 20410102.
- "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.". Hum. Mutat. 10 (4): 268–279. 1997. doi:10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID 9338580.
- "Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.". Am. J. Hum. Genet. 59 (6): 1233–1242. 1996. PMID 8940268.
- "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.". Hum. Mutat. 31 (12): E1894–1914. 2010. doi:10.1002/humu.21367. PMID 20886637.
- "Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.". J. Cell. Physiol. 212 (3): 737–743. 2007. doi:10.1002/jcp.21070. PMID 17458901.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.". Nat. Genet. 42 (12): 1118–1125. 2010. doi:10.1038/ng.717. PMID 21102463.
- "Krabbe disease: genetic aspects and progress toward therapy.". Mol. Genet. Metab. 70 (1): 1–9. 2000. doi:10.1006/mgme.2000.2990. PMID 10833326.
- "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. 2007. 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.
- "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. 2006. doi:10.1007/s10038-006-0396-3. PMID 16607461.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–2127. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Molecular basis of late-life globoid cell leukodystrophy.". Hum. Mutat. 14 (3): 256–262. 1999. doi:10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. PMID 10477434.
- "Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.". Hum. Genet. 100 (3–4): 450–456. 1997. doi:10.1007/s004390050532. PMID 9272171.
- "Molecular heterogeneity of Krabbe disease.". J. Inherit. Metab. Dis. 22 (2): 155–162. 1999. doi:10.1023/A:1005449919660. PMID 10234611.
- "Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.". Biochim. Biophys. Acta 1395 (1): 62–67. 1998. doi:10.1016/S0167-4781(97)00140-1. PMID 9434153.
- "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. 2002. doi:10.1016/S0009-8981(01)00791-4. PMID 11814461.
- "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.". Mutat. Res. 694 (1–2): 13–19. 2010. doi:10.1016/j.mrfmmm.2010.08.006. PMID 20800603.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.". PLOS ONE 5 (9): e12862. 2010. doi:10.1371/journal.pone.0012862. PMID 20877624. Bibcode: 2010PLoSO...512862H.
External links
- GeneReviews/NCBI/NIH/UW entry on Krabbe disease
- OMIM entries on Krabbe disease
- Galactosylceramidase at the US 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
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