GALNS : galactosamine (N-acetyl)-6-sulfatase
Description
The GALNS gene provides instructions for making an enzyme called N-acetylgalactosamine-6-sulfatase. This enzyme plays a crucial role in the breakdown of a complex sugar molecule called glycosaminoglycan (GAG). GAGs are found in connective tissues throughout the body, and their breakdown is essential for proper tissue development and function. Mutations in the GALNS gene can lead to a deficiency of N-acetylgalactosamine-6-sulfatase, resulting in the accumulation of GAGs in various tissues. This accumulation can lead to a range of health problems, collectively known as mucopolysaccharidoses.
Associated Diseases
Did you know?
Morquio A Syndrome is a rare genetic disorder affecting approximately 1 in 200,000 individuals.
