N-Acetylgalactosamine-6-Sulfatase (GALNS) ELISA Kit for Human

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

GALNS: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A); also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the sulfatase family.

Protein type: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.1.6.4

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: lysosomal lumen

Molecular Function: metal ion binding; N-acetylgalactosamine-4-sulfatase activity; N-acetylgalactosamine-6-sulfatase activity; sulfuric ester hydrolase activity

Biological Process: carbohydrate metabolic process; glycosaminoglycan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process

Disease: Mucopolysaccharidosis, Type Iva