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。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。 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。 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。 ^ a b c “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. http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=17403939.  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. 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