Galactocerebrosidase (GALC) hydrolyses the galactosyl moiety...

created [InstanceEdit:1606569] Jassal, B, 2011-09-23
dbId 1606566
displayName Galactocerebrosidase (GALC) hydrolyses the galactosyl moiety...
modified [InstanceEdit:9842009] Stephan, Ralf, 2023-08-16
schemaClass Summation
text 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).
Cite Us!