Arylsulfatase E
Encyclopedia
Arylsulfatase E also known as ARSE is an enzyme that, in humans, is encoded by the ARSE gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Function

Arylsulfatase E is a member of the arylsulfatase
Arylsulfatase
Arylsulfatase is a type of sulfatase enzyme.Types include:*Arylsulfatase A *Arylsulfatase B *Steroid sulfatase *ARSC2*ARSD*ARSE...

 subfamily of sulfatase
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 amines...

 enzymes that catalyze the hydrolysis of sulfate ester
Organosulfate
Organosulfates are a class of organic compounds sharing a common functional group commonly 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 and sulfuric acid, although many are not...

s. It is glycosylated
Glycosylation
Glycosylation is the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule . In biology glycosylation refers to the enzymatic process that attaches glycans to proteins, lipids, or other organic molecules...

 postranslationally and localized to the golgi apparatus
Golgi apparatus
The Golgi apparatus is an organelle found in most eukaryotic cells. It was identified in 1898 by the Italian physician Camillo Golgi, after whom the Golgi apparatus is named....

. 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
X-linked recessive chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.It has been associated with arylsulfatase E....

, a disease characterized by abnormalities in cartilage and bone development.
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