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GALNS

Official Full Name
galactosamine (N-acetyl)-6-sulfatase
Organism
Homo sapiens
GeneID
2588
Background
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]
Synonyms
GAS; MPS4A; GalN6S; GALNAC6S;

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