4FDJ, 4FDI258850917ENSG00000141012ENSMUSG00000015027P34059Q571E4NM_000512NM_001323543NM_001323544NM_001193645NM_016722NP_000503NP_001310472NP_001310473NP_001180574NP_057931N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
[5][6] 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.
[6] This article incorporates text from the United States National Library of Medicine, which is in the public domain.