Entrez 2588 | Ensembl ENSG00000141012 | |
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Aliases GALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A External IDs OMIM: 612222 MGI: 1355303 HomoloGene: 55468 GeneCards: GALNS |
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the 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.
References
Galactosamine-6 sulfatase Wikipedia(Text) CC BY-SA