N-acetylglucosamine-6-sulfatase

N-acetylglucosamine-6-sulfatase (G6S) is an enzyme that is involved in the degradation of glycosaminoglycans in the body. This enzyme is encoded by the G6S gene in humans.

Function

N-acetylglucosamine-6-sulfatase is a lysosomal enzyme that catalyzes the removal of 6-sulfate groups from the N-acetyl-D-glucosamine 6-sulfate units of keratan sulfate and chondroitin sulfate. The enzyme is a member of the sulfatase family, which is a group of enzymes that catalyze the hydrolysis of sulfuric acid esters.

Clinical significance

Deficiency of N-acetylglucosamine-6-sulfatase leads to the lysosomal storage disorder Mucopolysaccharidosis type IIID (MPS IIID), also known as Sanfilippo syndrome type D. This is a rare and severe neurodegenerative disorder characterized by progressive mental and motor deterioration, leading to severe disability and death in early adulthood.

Structure

The G6S gene is located on the long arm of chromosome 12 (12q14) and spans approximately 40 kilobases. The gene encodes a protein of 552 amino acids with a calculated molecular mass of 63 kDa.

See also

• Mucopolysaccharidosis
• Sanfilippo syndrome
• Lysosomal storage disease