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Literature summary for 3.2.1.52 extracted from

  • Perez, L.F.; Ribeiro, H.M.; Casal, J.A.; Pinto, R.A.; Sa Miranda, M.C.; Tutor, J.C.
    Thermodynamic characterization of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant (1999), Clin. Chim. Acta, 285, 45-51.
    View publication on PubMed
Search for more literature for 3.2.1.52

Protein Variants

Protein Variants Comment Organism
R178H from patient with the genetic disease GM2-gangliosidosis B1 variant, mutated Hex A, altered active site of alpha subunit 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.
N-acetyl-beta-D-hexosaminides + H2O Homo sapiens
-
 N-acetyl-D-hexosamines
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 patient with GM2-gangliosidosis B1 variant
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein
-
 Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte lysate Homo sapiens
-
plasma desalinated Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3,3-dichlorophenylsulfonphthaleinyl-N-acetyl-beta-D-glucosaminide + H2O
-
 Homo sapiens ?
-
 ?
4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside + H2O Hex A, R178H, and Hex B Homo sapiens 4-methylumbelliferone + 2-acetamido-2-deoxy-beta-D-glucopyranoside
-
 ?
4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside-6-sulfate + H2O Hex A, not hydrolyzed by R178H Homo sapiens 4-methylumbelliferone + 2-acetamido-2-deoxy-beta-D-glucopyranoside-6-sulfate
-
 ?
N-acetyl-beta-D-hexosaminides + H2O
-
 Homo sapiens N-acetyl-D-hexosamines
-
 ?

Subunits

Subunits Comment Organism
dimer Hex S: alpha alpha Homo sapiens
dimer Hex A: alpha beta, Hex B: beta beta Homo sapiens