Arylsulfatase E, also known as ARSE, is an enzyme that, in humans, is encoded by the ''ARSE''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
Arylsulfatase E is a member of the
arylsulfatase
Arylsulfatase (EC 3.1.6.1, sulfatase, nitrocatechol sulfatase, phenolsulfatase, phenylsulfatase, ''p''-nitrophenyl sulfatase, arylsulfohydrolase, 4-methylumbelliferyl sulfatase, estrogen sulfatase) is a type of sulfatase enzyme with systematic name ...
subfamily of
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 ...
enzymes that catalyze the hydrolysis of
sulfate ester
Organosulfates are a class of organic compounds sharing a common functional group with the structure R-O-SO3−. The SO4 core is a sulfate group and the R group is any organic residue. All organosulfates are formally esters derived from alcohols ...
s. It is
glycosylated
Glycosylation is the reaction in which a carbohydrate (or 'glycan'), i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor) in order to form a glycoconjugate. In biology (but not alw ...
postranslationally and localized to the
golgi apparatus
The Golgi apparatus (), also known as the Golgi complex, Golgi body, or simply the Golgi, is an organelle found in most eukaryotic cells. Part of the endomembrane system in the cytoplasm, it packages proteins into membrane-bound vesicles ins ...
. Sulfatases are essential for the correct composition of bone and cartilage matrix.
Clinical significance
Deficiencies in ARSE are associated with
X-linked recessive chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development.
References
Further reading
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External links
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