Cloned (Comment) | Organism |
---|---|
gene SGSH, DNA and amino acid sequence determination and analysis, expression of mutant S298P sulfamidase in BHK cells, rapid degradation is responsible for the low steady state level of the mutant protein. Only small amounts of the S298P sulfamidase are transported to the lysosomes after processing and secretion, most of the mutant sulfamidase exits the endoplasmic reticulum for proteasomal degradation | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
S298P | naturally occuring mutation involved in the Sanfilippo A syndrome, mutations Arg61SfsX69, Ser66Trp, Arg74Cys, Arg245His, Gly251Ala, Tyr403del, c.949รพ1G>C, are accompanying it on the other allele | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
56000 | - |
x * 56000, mature recombinant enzyme, SDS-PAGE, x * 63000, unprocessed recombinant enzyme, SDS-PAGE | Homo sapiens |
63000 | - |
x * 56000, mature recombinant enzyme, SDS-PAGE, x * 63000, unprocessed recombinant enzyme, SDS-PAGE | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene SGSH | - |
Subunits | Comment | Organism |
---|---|---|
? | x * 56000, mature recombinant enzyme, SDS-PAGE, x * 63000, unprocessed recombinant enzyme, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
sulfamidase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutation S298P leads to 97.7% reduced enzyme activity and proteasomal degradation of the mutant enzyme causing the mild clinical phenotype of Sanfilippo A syndrome or Mucopolysaccharidosis type IIIA, a fatal inherited lysosomal storage disease accompanied by progressive neurologic degeneration, overview. PPatients are objects for early sulfamidase replacement therapy or treatment with selective pharmacological chaperones. Treatments with several pharmacological chaperones, such as nojirimycin, deoxygalactonojirimycin, deoxymannojirimycin, N-butyldeoxynojirimycin, phenylbutyric acid, at various concentrations do not increase the sulfamidase activity in S298P mutant expressing cells | Homo sapiens |