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Added external link to GeneReviews/NCBI/NIH/UW entry on Krabbe disease
replaced protein box with transcluded GNF protein bot box; added further reading section; added enzyme infobox
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{{protein
{{enzyme
| Name = galactosylceramidase
| Name = Galactosylceramidase
| caption =
| EC_number = 3.2.1.46
| CAS_number = 9027-89-8
| IUBMB_EC_number = 3/2/1/46
| GO_code = 0004336
| image =
| image =
| width =
| width =
| HGNCid = 4115
| caption =
| Symbol = GALC
| AltSymbols =
| EntrezGene = 2581
| OMIM = 606890
| RefSeq = NM_000153
| UniProt = P54803
| PDB =
| ECnumber = 3.2.1.46
| Chromosome = 14
| Arm = q
| Band = 31
| LocusSupplementaryData =
}}
}}
{{PBB|geneid=2581}}
⚫
'''Galactosylceramidase''' (or '''galactocerebrosidase''')<ref name="pmid17403939">{{cite journal |author=Lee WC, Tsoi YK, Troendle FJ, ''et al'' |title=Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy |journal=FASEB J. |volume=21 |issue=10 |pages=2520–7 |year=2007 |month=August |pmid=17403939 |doi=10.1096/fj.06-6169com |url=http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=17403939}}</ref> is an [[enzyme]] which removes [[galactose]] from [[ceramide]] derivatives ([[galactocerebroside]]s).

⚫
'''Galactosylceramidase''' (or '''galactocerebrosidase''') is an [[enzyme]] that in humans is encoded by the ''GALC'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: galactosylceramidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2581| accessdate = }}</ref><ref name="pmid17403939">{{cite journal |author=Lee WC, Tsoi YK, Troendle FJ, ''et al'' |title=Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy |journal=FASEB J. |volume=21 |issue=10 |pages=2520–7 |year=2007 |month=August |pmid=17403939 |doi=10.1096/fj.06-6169com |url=http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=17403939}}</ref> Galactosylceramidase is an [nzyme which removes [[galactose]] from [[ceramide]] derivatives ([[galactocerebroside]]s).

== Function ==
Galactosylceramidase is a [[lysosomal]] protein which hydrolyzes the [[galactose]] ester bonds of [[galactocerebroside]], galactosylsphingosine, [[lactosylceramide]], and monogalactosyldiglyceride.<ref name="entrez"/>


==Pathology==
==Pathology==
A deficiency is associated with [[Krabbe disease]].
Mutations in this gene have been associated with [[Krabbe disease]], also known as globoid cell leukodystrophy.<ref name="entrez"/>


==References==
==References==
{{reflist}}
{{reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal |author=Lee WC, Kang D, Causevic E, ''et al.'' |title=Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. |journal=J. Neurosci. |volume=30 |issue= 16 |pages= 5489-97 |year= 2010 |pmid= 20410102 |doi= 10.1523/JNEUROSCI.6383-09.2010 }}
*{{cite journal |author=Wenger DA, Rafi MA, Luzi P |title=Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. |journal=Hum. Mutat. |volume=10 |issue= 4 |pages= 268-79 |year= 1997 |pmid= 9338580 |doi= 10.1002/(SICI)1098-1004(1997)10:4&lt;268::AID-HUMU2>3.0.CO;2-D }}
*{{cite journal |author=De Gasperi R, Gama Sosa MA, Sartorato EL, ''et al.'' |title=Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. |journal=Am. J. Hum. Genet. |volume=59 |issue= 6 |pages= 1233-42 |year= 1996 |pmid= 8940268 |doi= }}
*{{cite journal |author=Tappino B, Biancheri R, Mort M, ''et al.'' |title=Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. |journal=Hum. Mutat. |volume=31 |issue= 12 |pages= E1894-914 |year= 2010 |pmid= 20886637 |doi= 10.1002/humu.21367 }}
*{{cite journal |author=Formichi P, Radi E, Battisti C, ''et al.'' |title=Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients. |journal=J. Cell. Physiol. |volume=212 |issue= 3 |pages= 737-43 |year= 2007 |pmid= 17458901 |doi= 10.1002/jcp.21070 }}
*{{cite journal |author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal |author=Franke A, McGovern DP, Barrett JC, ''et al.'' |title=Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. |journal=Nat. Genet. |volume=42 |issue= 12 |pages= 1118-25 |year= 2010 |pmid= 21102463 |doi= 10.1038/ng.717 }}
*{{cite journal |author=Wenger DA, Rafi MA, Luzi P, ''et al.'' |title=Krabbe disease: genetic aspects and progress toward therapy. |journal=Mol. Genet. Metab. |volume=70 |issue= 1 |pages= 1-9 |year= 2000 |pmid= 10833326 |doi= 10.1006/mgme.2000.2990 }}
*{{cite journal |author=Lissens W, Arena A, Seneca S, ''et al.'' |title=A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. |journal=Hum. Mutat. |volume=28 |issue= 7 |pages= 742 |year= 2007 |pmid= 17579360 |doi= 10.1002/humu.9500 }}
*{{cite journal |author=Beier UH, Görögh T |title=Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells. |journal=Int. J. Cancer |volume=115 |issue= 1 |pages= 6-10 |year= 2005 |pmid= 15657896 |doi= 10.1002/ijc.20851 }}
*{{cite journal |author=Xu C, Sakai N, Taniike M, ''et al.'' |title=Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. |journal=J. Hum. Genet. |volume=51 |issue= 6 |pages= 548-54 |year= 2006 |pmid= 16607461 |doi= 10.1007/s10038-006-0396-3 }}
*{{cite journal |author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal |author=De Gasperi R, Gama Sosa MA, Sartorato E, ''et al.'' |title=Molecular basis of late-life globoid cell leukodystrophy. |journal=Hum. Mutat. |volume=14 |issue= 3 |pages= 256-62 |year= 1999 |pmid= 10477434 |doi= 10.1002/(SICI)1098-1004(1999)14:3&lt;256::AID-HUMU9>3.0.CO;2-6 }}
*{{cite journal |author=Furuya H, Kukita Y, Nagano S, ''et al.'' |title=Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. |journal=Hum. Genet. |volume=100 |issue= 3-4 |pages= 450-6 |year= 1997 |pmid= 9272171 |doi= }}
*{{cite journal |author=Fu L, Inui K, Nishigaki T, ''et al.'' |title=Molecular heterogeneity of Krabbe disease. |journal=J. Inherit. Metab. Dis. |volume=22 |issue= 2 |pages= 155-62 |year= 1999 |pmid= 10234611 |doi= }}
*{{cite journal |author=Sakai N, Fukushima H, Inui K, ''et al.'' |title=Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization. |journal=Biochim. Biophys. Acta |volume=1395 |issue= 1 |pages= 62-7 |year= 1998 |pmid= 9434153 |doi= }}
*{{cite journal |author=Harzer K, Knoblich R, Rolfs A, ''et al.'' |title=Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. |journal=Clin. Chim. Acta |volume=317 |issue= 1-2 |pages= 77-84 |year= 2002 |pmid= 11814461 |doi= }}
*{{cite journal |author=Flachsbart F, Franke A, Kleindorp R, ''et al.'' |title=Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. |journal=Mutat. Res. |volume=694 |issue= 1-2 |pages= 13-9 |year= 2010 |pmid= 20800603 |doi= 10.1016/j.mrfmmm.2010.08.006 }}
*{{cite journal |author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal |author=Hendrickson SL, Lautenberger JA, Chinn LW, ''et al.'' |title=Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |journal=PLoS ONE |volume=5 |issue= 9 |pages= e12862 |year= 2010 |pmid= 20877624 |doi= 10.1371/journal.pone.0012862 }}
{{refend}}


==External links==
==External links==
Line 31: Line 51:
* {{MeshName|Galactosylceramidase}}
* {{MeshName|Galactosylceramidase}}

{{Glycoside hydrolases}}
{{Glycoside hydrolases}}
{{Sphingolipid metabolism enzymes}}
{{Sphingolipid metabolism enzymes}}

Revision as of 17:29, 4 April 2011

Galactosylceramidase
Identifiers
EC no.3.2.1.46
CAS no.9027-89-8
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins

Template:PBB

Galactosylceramidase (or galactocerebrosidase) is an enzyme that in humans is encoded by the GALC gene.[1][2] Galactosylceramidase is an [nzyme which removes galactose from ceramide derivatives (galactocerebrosides).

Function

Galactosylceramidase is a lysosomal protein which hydrolyzes the galactose ester bonds of galactocerebroside, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1]

Pathology

Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.[1]

References

  1. ^ a b c "Entrez Gene: galactosylceramidase".
  2. ^ Lee WC, Tsoi YK, Troendle FJ; et al. (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. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

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. PMID 20410102. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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&lt;268::AID-HUMU2>3.0.CO;2-D. PMID 9338580.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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. PMID 8940268. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 20886637. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 16344560. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 21102463. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 15489334. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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&lt;256::AID-HUMU9>3.0.CO;2-6. PMID 10477434. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 9272171. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Fu L, Inui K, Nishigaki T; et al. (1999). "Molecular heterogeneity of Krabbe disease". J. Inherit. Metab. Dis. 22 (2): 155–62. PMID 10234611. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 9434153. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 11814461. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 12477932. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 20877624. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
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