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Literature summary for 3.2.1.49 extracted from

  • Kanekura, T.; Sakuraba, H.; Matsuzawa, F.; Aikawa, S.; Doi, H.; Hirabayashi, Y.; Yoshii, N.; Fukushige, T.; Kanzaki, T.
    Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes (2005), J. Dermatol. Sci., 37, 15-20.
    View publication on PubMed
Search for more literature for 3.2.1.49

Protein Variants

Protein Variants Comment Organism
R329Q site-specific mutagenesis, construction of the naturally occurring mutation at R329 in Kanzaki disease, less severe phenotype compared to R329W Homo sapiens
R329Q mutation results in protein instability Homo sapiens
R329W site-specific mutagenesis, construction of the naturally occurring mutation at R329 in Kanzaki disease, more severe phenotype compared to R329Q Homo sapiens
R329W mutation results in protein instability Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme deficiency, due to missense mutations at residue R329 causing structural changes in the enzyme leading to differing substrate specificity, causes the Kanzaki disease, an autosomal recessine storage disorder with accumulation of GalNAcalpha1-O-Ser/Thr in the lysosome and increased urinary excretion of O-linked sialylglycopeptides, phenotype, overview ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
 Homo sapiens
-
plasma
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
-
 Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-alpha-D-galactosaminide + H2O
-
 Homo sapiens 4-methylumbelliferone + alpha-D-galactosamine
-
 ?
GalNAc-alpha1-O-Ser + H2O
-
 Homo sapiens ?
-
 ?
GalNAc-alpha1-O-Thr + H2O
-
 Homo sapiens ?
-
 ?
additional information enzyme deficiency, due to missense mutations at residue R329 causing structural changes in the enzyme leading to differing substrate specificity, causes the Kanzaki disease, an autosomal recessine storage disorder with accumulation of GalNAcalpha1-O-Ser/Thr in the lysosome and increased urinary excretion of O-linked sialylglycopeptides, phenotype, overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
alpha-NAGA
-
 Homo sapiens