Iduronate 2-sulfatase (EC 3.1.6.13; systematic name
L-iduronate-2-sulfate 2-sulfohydrolase) is a
sulfatase
Sulfatases are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a range of substrates, including steroids, carbohydrates and proteins. Sulfate esters may be formed from various alcohols and amin ...
enzyme associated with
Hunter syndrome.
It catalyses hydrolysis of the 2-sulfate groups of the
L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.
Function
Iduronate 2-sulfatase is required for the lysosomal degradation of
heparan sulfate and
dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked
mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within ...
type II, also known as Hunter syndrome. At least 174 disease-causing mutations in this gene have been discovered.
Iduronate-2-sulfatase has a strong
sequence homology
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a spe ...
with human
arylsulfatases A, B, and C, and human
glucosamine-6-sulfatase. A splice variant of this gene has been described.
See also
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Idursulfase
Idursulfase (brand name Elaprase), manufactured by Takeda, is a drug used to treat Hunter syndrome (also called MPS-II). It is a purified form of the lysosomal enzyme iduronate-2-sulfatase and is produced by recombinant DNA technology
Molecular ...
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II
EC 3.1.6
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