Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.10.1.1 extracted from

  • Muschol, N.; Pohl, S.; Meyer, A.; Gal, A.; Ullrich, K.; Braulke, T.
    Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome (2011), Am. J. Med. Genet. A, 155A, 1634-1639.
    View publication on PubMed

Cloned(Commentary)

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

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

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Molecular Weight [Da]

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

Organism UniProt Comment Textmining
Homo sapiens
-
gene SGSH
-

Subunits

Subunits Comment Organism
? x * 56000, mature recombinant enzyme, SDS-PAGE, x * 63000, unprocessed recombinant enzyme, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
sulfamidase
-
Homo sapiens

General Information

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