Choline-sulfatase

Choline-sulfatase is an enzyme that catalyzes the hydrolysis of choline-O-sulfate to yield choline and sulfate. This enzyme plays a crucial role in the metabolism of choline, a vital nutrient that is involved in numerous biological processes.

Function

Choline-sulfatase, also known as arylsulfatase B or N-acetylgalactosamine-4-sulfatase, is a member of the sulfatase family. It is involved in the degradation of glycosaminoglycans such as dermatan sulfate and chondroitin sulfate in the lysosome.

The enzyme removes sulfate groups from the N-acetylgalactosamine 4-sulfate units of the glycosaminoglycans dermatan sulfate and chondroitin sulfate. Deficiencies in this enzyme lead to the lysosomal storage disorder mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Structure

The protein structure of choline-sulfatase is complex, consisting of multiple amino acid sequences that fold into a specific three-dimensional shape. This shape is crucial for the enzyme's function, as it allows the enzyme to bind to its substrate, choline-O-sulfate, and catalyze its conversion into choline and sulfate.

Clinical significance

Deficiency in choline-sulfatase can lead to a rare genetic disorder known as Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI. This condition is characterized by a variety of symptoms, including short stature, skeletal abnormalities, and heart and lung problems.

See also

• Choline
• Sulfatase
• Maroteaux-Lamy syndrome
• Mucopolysaccharidosis

References

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