N-acetylgalactosamine-6-sulfatase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that, in humans, is encoded by the ''GALNS''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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.
References
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External links
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PDBe-KBprovides an overview of all the structure information available in the PDB for Human N-acetylgalactosamine-6-sulfatase
{{hydrolase-stub