Chondro-4-sulfatase

Chondro-4-sulfatase (also known as arylsulfatase B or ARSB) is an enzyme that plays a crucial role in the metabolism of sulfated glycosaminoglycans. It is encoded by the ARSB gene in humans.

Function

Chondro-4-sulfatase is involved in the stepwise degradation of glycosaminoglycans such as dermatan sulfate and chondroitin sulfate. These complex molecules are broken down in the lysosome, an organelle within the cell that digests and recycles various molecules. Chondro-4-sulfatase specifically removes sulfate groups at the 4-position of these molecules, a critical step in their breakdown.

Clinical significance

Mutations in the ARSB gene that reduce or eliminate the function of chondro-4-sulfatase result in a rare genetic disorder known as Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome. This condition is characterized by a variety of symptoms including short stature, skeletal abnormalities, heart valve disease, and reduced life expectancy.

Structure

The ARSB gene is located on the long (q) arm of chromosome 5 at position 13.3. The encoded protein is approximately 533 amino acids in length.

See also

• Mucopolysaccharidosis
• Lysosomal storage disease
• Sulfatase

External links

• WikiGenes - ARSB
• Genetics Home Reference - ARSB
• NCBI - ARSB