Literature summary for 3.10.1.1 extracted from

Meyer, A.; Kossow, K.; Gal, A.; Steglich, C.; Muehlhausen, C.; Ullrich, K.; Braulke, T.; Muschol, N.
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) (2008), Hum. Mutat., 29, 770.

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Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination and anaylsis, genotyping of patients with mucopolysaccharidosis type IIIA, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
S298P	site-directed mutagenesis, the mutant shows a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA, phenotype, overview	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme defiency leads to defective lysosomal degradation of the glycosaminoglycan heparan sulfate, mutations of the enzyme are responsible for mucopolysaccharidosis type IIIA, i.e. Sanfilippo A syndrome, onset and progression of the disease, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme defiency leads to defective lysosomal degradation of the glycosaminoglycan heparan sulfate, mutations of the enzyme are responsible for mucopolysaccharidosis type IIIA, i.e. Sanfilippo A syndrome, onset and progression of the disease, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
SGSH	-	Homo sapiens

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Release 2023.1 (January 2023)