Reactome | GALC hydrolyzes GalCer

GALC hydrolyzes GalCer

Stable Identifier

R-HSA-1606564

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

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Galactocerebrosidase (GALC) hydrolyses the galactosyl moiety from galactocerebroside (also called galactosylceramide, GalCer) to form ceramide (Sakai et al. 1994). Saposin A stimulates the reaction (Sap A, PSAP(60-142)) (Morimoto et al., 1989). Defects in GALC are the cause of leukodystrophy globoid cell (GLD) (MIM:245200), also called Krabbe disease (Chen et al., 1993; Chen & Wenger, 1993; Wenger et al., 1997). Defects in Sap A cause an atypical form of Krabbe disease (KRBSAPA, MIM:611722) (Spiegel et a., 2005).

Literature References

PubMed ID	Title	Journal	Year
7852280	Purification and characterization of galactocerebrosidase from human lymphocytes Iwamatsu, A, Midorikawa, M, Sakai, N, Ueda, S, Okuno, Y, Inui, K, Okada, S	J Biochem	1994
8399327	Galactocerebrosidase from human urine: purification and partial characterization Wenger, DA, Chen, YQ	Biochim Biophys Acta	1993
8281145	Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy Rafi, MA, de Gala, G, Wenger, DA, Chen, YQ	Hum Mol Genet	1993
15773042	A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans Zeigler, M, Mandel, H, Mengistu, G, Shalev, S, Spiegel, R, Meidan, B, Shneor, Y, Bach, G, Sury, V	Mol Genet Metab	2005
9338580	Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications Luzi, P, Wenger, DA, Rafi, MA	Hum Mutat	1997
2717620	Saposin A: second cerebrosidase activator protein Kishimoto, Y, Martin, BM, O'Brien, JS, Morimoto, S, Yamamoto, Y, Kretz, KA	Proc Natl Acad Sci U S A	1989