Arylsulfatase L

Arylsulfatase L is an enzyme that is encoded by the ARSL gene in humans. This enzyme is part of the sulfatase family, which is responsible for the hydrolysis of sulfate esters. It is a lysosomal enzyme that is involved in the metabolism of sulfated glycosaminoglycans, including chondroitin sulfate and dermatan sulfate.

Function

The ARSL gene provides instructions for making an enzyme called arylsulfatase L. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Arylsulfatase L is involved in the breakdown of large sugar molecules called glycosaminoglycans. Specifically, it helps break down a glycosaminoglycan called chondroitin sulfate.

Clinical significance

Mutations in the ARSL gene can lead to a deficiency of arylsulfatase L, which can cause a variety of medical conditions. These include mucopolysaccharidosis, a group of metabolic disorders characterized by the accumulation of glycosaminoglycans in the body's cells. Symptoms of these disorders can include developmental delay, organomegaly, and skeletal abnormalities.

See also

• Sulfatase
• Lysosome
• Glycosaminoglycan
• Chondroitin sulfate
• Dermatan sulfate
• Mucopolysaccharidosis