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Literature summary for 3.2.1.23 extracted from

  • Zhang, S.; Bagshaw, R.; Hilson, W.; Oho, Y.; Hinek, A.; Clarke, J.T.; Callahan, J.W.
    Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis (2000), Biochem. J., 348, 621-632.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expression in COS cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
D332N mutation seriously reduces catalytic activity Homo sapiens
R148S mutation has no effect on catalytic activity Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens patients with type 1 HM1 gangliosidosis (mutation D332N on one allele and mutation S532G on the other allele) have less than 1% residual beta-galactosidase activity and minimal detectable levels of immunoreactive beta-galactosidase protein in fibroblasts. Most of the missense mutations described in GM1 gangliosidosis have little effect on catalytic activity, but do affect protein conformation such that the resulting protein cannot be transported out of the ER and fails to arrive in the lysosome. This accounts for the minimal amounts of the enzyme protein and activity seen in most GM1 gangliosidosis patient fibroblast ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information patients with type 1 HM1 gangliosidosis (mutation D332N on one allele and mutation S532G on the other allele) have less than 1% residual beta-galactosidase activity and minimal detectable levels of immunoreactive beta-galactosidase protein in fibroblasts. Most of the missense mutations described in GM1 gangliosidosis have little effect on catalytic activity, but do affect protein conformation such that the resulting protein cannot be transported out of the ER and fails to arrive in the lysosome. This accounts for the minimal amounts of the enzyme protein and activity seen in most GM1 gangliosidosis patient fibroblast Homo sapiens ?
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