N-acetylgalactosamine-6-sulfatase (GALNS)

N-acetylgalactosamine-6-sulfatase (GALNS) is a lysosomal exohydrolase enzyme that removes sulfate groups from terminal N-acetylgalactosamine-6-sulfate and galactose-6-sulfate residues in mucopolysaccharides, specifically keratan sulfate and chondroitin-6-sulfate, which are major components of cartilage and cornea[1][2][3][4][5][6][7][9]. Deficiency of GALNS due to mutations in the GALNS gene leads to lysosomal storage of undegraded glycosaminoglycans, causing Morquio A syndrome (mucopolysaccharidosis IV A), a disorder characterized by skeletal abnormalities, short stature, and corneal opacity[1][2][3]. Engineered recombinant forms of this enzyme, such as elosulfase alfa, are approved for enzyme replacement therapy in affected patients[4][5].

Other names

ChondroitinaseChondroitinsulfataseFLJ17434FLJ42844galactose-6-sulfate sulfataseGalN6SGalNAc6S sulfataseN-acetylgalactosamine-6-sulfate sulfataseN-acetylgalactosamine 6-sulfate sulfataseMPS4AGALNS_HUMANGAS

Enzyme replacement therapy (restores deficient enzyme activity to enable glycosaminoglycan degradation)