GALNS( Human )

Entrez Gene 2588 Entrez Gene 2588
galactosamine (N-acetyl)-6-sulfatase

Alias

GALNAC6S|GAS|GalN6S|MPS4A

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].

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