Galactosylceramidase

Galactosylceramidase
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

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

  1. 1 2 3 "Entrez Gene: galactosylceramidase".
  2. ↑ 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): 2520–7. doi:10.1096/fj.06-6169com. PMID 17403939.
GALC
Identifiers
AliasesGALC, entrez:2581, galactosylceramidase
External IDsOMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC
Gene location (Human)
Chr.Chromosome 14 (human)[1]
Band14q31.3Start87,837,820 bp[1]
End87,993,665 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

2581

14420

Ensembl

ENSG00000054983

ENSMUSG00000021003

UniProt

P54803

P54818

RefSeq (mRNA)

NM_000153
NM_001037525
NM_001201401
NM_001201402

NM_008079

RefSeq (protein)

NP_000144
NP_001188330
NP_001188331

NP_032105

Location (UCSC)Chr 14: 87.84 – 87.99 MbChr 12: 98.2 – 98.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.


  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000054983 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021003 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
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