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Literature summary for 3.2.1.22 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
Search for more literature for 3.2.1.22

Protein Variants

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

Localization

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

Molecular Weight [Da]

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P06280
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Subunits

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

Synonyms

Synonyms Comment Organism
alpha-Gal A
-
 Homo sapiens
alpha-galactosidase A
-
 Homo sapiens
GLA
-
 Homo sapiens