Alpha-galactosidase A removes a terminal galactose from alpha-D-galactoside oligomers

Stable Identifier
Reaction [transition]
Homo sapiens
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Alpha-galactosidase A (GLA) (Bishop et al. 1986) removes the terminal galactose residue from glycolipids or glycoproteins resulting in galactose and an alcohol. An example is the Fabry disease substrate globotriaosylceramide (Gb3Cer) which is hydrolysed to form galactose and lactosylceramide. GLA functions as a homodimer (Garman & Garboczi 2004) and defects in this enzyme lead to Fabry disease (FD) (MIM:301500), a rare X-linked sphingolipidosis disease where glycolipids such as GB3 accumulate in many tissues (Garman & Garboczi 2004, Eng et al. 1993). Multiple mutations in GLA can cause the disease symptoms of Fabry disease (Shabeer et al. 2006).

Literature References
PubMed ID Title Journal Year
15003450 The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

Garman, SC, Garboczi, DN

J Mol Biol 2004
16595074 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Yasuda, M, Shabbeer, J, Benson, SD, Desnick, RJ

Hum Genomics 2006
7504405 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

Resnick-Silverman, LA, Eng, CM, Desnick, RJ, Astrin, KH, Niehaus, DJ

Am J Hum Genet 1993
3014515 Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

Hantzopoulos, P, Bernstein, HS, Desnick, RJ, Calhoun, DH, Bishop, DF, Quinn, M

Proc Natl Acad Sci U S A 1986
Catalyst Activity

alpha-galactosidase activity of GLA dimer [lysosomal lumen]

Orthologous Events
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