Literature summary for 3.1.6.13 extracted from

Lau, K.C.; Lam, C.W.
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient (2008), Clin. Chim. Acta, 392, 8-10.

Search for more literature for 3.1.6.13

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L339P	L339P is a mucopolysaccharidosis type II-causing mutation affecting maturation of the protein, the missense variant has stable mRNA but the residual enzyme activity remains 1.2% of wild type level	Homo sapiens
L339R	the missense variant has stable mRNA but the residual enzyme activity remains 2.3% of wild type level	Homo sapiens
Q389X	the nonsense mutation leads to premature chain termination at codom 398 and causes mucopolysaccharidosis type II	Homo sapiens
S369X	the nonsense mutation leads to premature chain termination at codom 369 and causes mucopolysaccharidosis type II	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
dermatan sulfate + H2O	-	Homo sapiens	dermatan + sulfate	-	?
heparan sulfate + H2O	-	Homo sapiens	dermatan + sulfate	-	?

Synonyms

Synonyms	Comment	Organism
IDS	-	Homo sapiens

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Release 2023.1 (January 2023)