Aliases for GALNS Gene
External Ids for GALNS Gene
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]
GeneCards Summary for GALNS Gene
GALNS (Galactosamine (N-Acetyl)-6-Sulfatase) is a Protein Coding gene. Diseases associated with GALNS include mucopolysaccharidosis iva and mucopolysaccharidosis iv. Among its related pathways are Lysosome and Metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-6-sulfatase activity. An important paralog of this gene is ARSJ.