| Gene Symbol | GALNS |
| Entrez Gene ID | 2588 |
| Full Name | galactosamine (N-acetyl)-6-sulfatase |
| Synonyms | GALNAC6S,GAS,GalN6S,MPS4A |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Mucopolysaccharidosis IVA, 253000 (3) |
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