GALC hydrolyzes GalCer

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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
Catalyst Activity

galactosylceramidase activity of GALC [lysosomal lumen]

This event is regulated
Orthologous Events
Cite Us!