GLA hydrolyzes PSAP(195-273):Gb3Cer:PE

H2O + PSAP(195-273):Gb3Cer:PE → Gal + PSAP(195-273):LacCer:PE

Reactome

R-HSA-1605736

Compartment

lysosomal lumen

Rhea

None recorded

Catalysed by

• alpha-galactosidase activity of GLA dimer [lysosomal lumen]EC 3.2.1.22

Literature

1. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme Proc Natl Acad Sci U S A, 1986
2. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase J Mol Biol, 2004
3. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease Am J Hum Genet, 1993
4. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations Hum Genomics, 2006
5. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease Hum Genet, 1993