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Literature summary extracted from

  • Lukas, J.; Giese, A.K.; Markoff, A.; Grittner, U.; Kolodny, E.; Mascher, H.; Lackner, K.J.; Meyer, W.; Wree, P.; Saviouk, V.; Rolfs, A.
    Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease (2013), PLoS Genet., 9, e1003632.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.22 D246N the mutant shows about 37% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118C the mutant shows about 20% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118G the mutant shows about 38% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118H the mutant shows about 68% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118L the mutant shows about 52% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118P the mutant shows about 48% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 R118S the mutant shows about 78% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126C the mutant shows about 3% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126G the mutant shows about 52% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126I the mutant shows about 38% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126N the mutant shows about 17% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126R the mutant shows about 20% activity compared to the wild type enzyme Homo sapiens
3.2.1.22 S126T the mutant shows about 48% activity compared to the wild type enzyme Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.2.1.22 lysosome
-
 Homo sapiens 5764
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
3.2.1.22 46000
-
 x * 46000, SDS-PAGE Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.22 Homo sapiens P06280
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.22 HEK-293H cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.22 4-methylumbelliferyl alpha-D-galactoside + H2O
-
 Homo sapiens 4-methylumbelliferone + alpha-D-galactose
-
 ?

Subunits

EC Number Subunits Comment Organism
3.2.1.22 ? x * 46000, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
3.2.1.22 alpha-Gal A
-
 Homo sapiens
3.2.1.22 alpha-galactosidase A
-
 Homo sapiens
3.2.1.22 GLA
-
 Homo sapiens