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) |