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Literature summary extracted from

  • Sharma, R.; Bukovac, S.; Callahan, J.; Mahuran, D.
    A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside (2003), Biochim. Biophys. Acta, 1637, 113-118.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.52 betaAsp452Asn/betaLeu453Arg the mutant enzyme of HexB exhibits more than 30fold increase in its ability to hydrolyze a 6-sulfated substrate and is able to hydrolyze GM2 ganglioside when the GM2 activator protein is replaced by sodium taurocholate Homo sapiens
3.2.1.52 R424Q the mutant form of HexA shows about 3fold increase in its Km-value for the complex of GM2 activator protein and GM2 ganglioside Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
3.2.1.52 0.046
-
 complex of GM2 activator protein and GM2 ganglioside wild-type enzyme Homo sapiens
3.2.1.52 0.12
-
 complex of GM2 activator protein and GM2 ganglioside mutant enzyme R424Q Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.2.1.52 additional information Homo sapiens deficiency of either of the two subunits results in severe neurological disease due to the storage of GM2 gangliodide - Tay-Sachs disease, alpha deficiency, and Sandhoff disease, beta deficiency ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.52 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.52 placenta
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.52 complex of GM2 activator protein and GM2 ganglioside + H2O
-
 Homo sapiens ?
-
 ?
3.2.1.52 GM2 ganglioside + H2O
-
 Homo sapiens ?
-
 ?
3.2.1.52 additional information deficiency of either of the two subunits results in severe neurological disease due to the storage of GM2 gangliodide - Tay-Sachs disease, alpha deficiency, and Sandhoff disease, beta deficiency Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.52 beta-hexosaminidase A
-
 Homo sapiens