Cloned (Comment) | Organism |
---|---|
expression in COS cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D332N | mutation seriously reduces catalytic activity | Homo sapiens |
R148S | mutation has no effect on catalytic activity | Homo sapiens |
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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 | ? | - |
? |