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Literature summary for 3.2.1.49 extracted from

  • Tajima, Y.; Kawashima, I.; Tsukimura, T.; Sugawara, K.; Kuroda, M.; Suzuki, T.; Togawa, T.; Chiba, Y.; Jigami, Y.; Ohno, K.; Fukushige, T.; Kanekura, T.; Itoh, K.; Ohashi, T.; Sakuraba, H.
    Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease (2009), Am. J. Hum. Genet., 85, 569-580.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.49

Application

Application Comment Organism
biotechnology use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease Homo sapiens
medicine use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression of the engineered enzyme in CHO cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
S188E/A191L Ser188 and Ala191 play important roles in the recognition of an N-acetylgalactosamine residue in NAGA, while lu203 and Leu206 play important roles in the recognition of a galactose residue in GLA. Construction of a modified alpha-N-acetylgalactosaminidase with alpha-galactosidase A-like substrate specificity. The enzyme acquires the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside, but retaines the wild-type NAGA's stability, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P17050
-
-

Purification (Commentary)

Purification (Comment) Organism
enzyme mutant from cell culture by dialysis, ammonium sulfate fractionation, hydrophobic interaction, cation exchange, and anion exchange chromatography Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
 Homo sapiens
-
fibroblast from a patient with Fabry disease Homo sapiens
-
heart
-
 Homo sapiens
-
kidney
-
 Homo sapiens
-
liver
-
 Homo sapiens
-
placenta
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
8.33
-
 purified recombinant enzyme mutant Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-alpha-D-galactopyranoside + H2O substrate of engineered enzyme mutant S188E/A191L, not of the wild-type enzyme Homo sapiens 4-methylumbelliferone + alpha-D-galactopyranose
-
 ?
globotriaosylceramide + H2O wild-type and engineered mutant enzymes Homo sapiens ?
-
 ?
additional information Ser188 and Ala191 play important roles in the recognition of an N-acetylgalactosamine residue in NAGA Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
NagA
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme deficiency in Fabry disease causes globotriaosylceramide accumulation in the liver, kidneys, and heart of Fabry patients, phenotype, overview. Wild-type enzyme intravenously injected into Fabry model mice prevents the globotriaosylceramide storage and improves the pathological changes in the organs, overview Homo sapiens