ガラクトシルセラミダーゼ
ガラクトシルセラミダーゼ(Galactosylceramidase、EC 3.2.1.46)は、ヒトにおいてGALC遺伝子でコードされる酵素である[1][2]。セラミド誘導体（ガラクトセレブロシド）からガラクトースを取り除く。
機能
ガラクトシルセラミダーゼは、ガラクトセレブロシド、ガラクトシルスフィンゴシン、ラクトシルセラミド、モノガラクトシルジグリセリドのガラクトースエステル結合を加水分解するリソソームタンパク質である[1]。
病理
この遺伝子の変異はクラッベ病と関連しており、また球様細胞白質萎縮症との関連も知られている[1]。
出典
- “Entrez Gene: galactosylceramidase”. 2014年4月14日閲覧。
- 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.
関連文献
- 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.
- 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. 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. 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, GA¶rA¶gh 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.
外部リンク
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