GALNS - galactosamine (N-acetyl)-6-sulfate sulfatase
Entrez Gene Name: galactosamine (N-acetyl)-6-sulfate sulfatase
Entrez GeneID: Human(2588)
, Mouse(50917), Rat(292073)
, Mouse(50917), Rat(292073) Synonyms: CHONDROITINASE ABC, FLJ00319, FLJ17434, FLJ42844, FLJ98217, GALNAC6S, GALNS, GAS, mFLJ00319, MPS4A
Gene Summary
- Human (2588): 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]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Binds:
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Literature References
- 17596283Sirko S, von Holst A, Wizenmann A, Götz M, Faissner A. Chondroitin sulfate glycosaminoglycans control proliferation, radial glia cell differentiation and neurogenesis in neural stem/progenitor cells.Development 2007 Aug 01;134(15):2727-38
- 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
- 15630019Govek EE, Newey SE, Van Aelst L. The role of the Rho GTPases in neuronal development.Genes Dev 2005 01 1;19(1):1-49 View 27 categorized literature findings and their references in IPA
Molecular Functions
calcium ion binding, catalytic activity, hydrolase activity, metal ion binding, N-acetylgalactosamine-4-sulfatase activity, N-acetylgalactosamine-6-sulfatase activity, sulfuric ester hydrolase activity
Protein Domains
enzyme, N-acetylgalactosamine-4-sulfatase, N-acetylgalactosamine-6-sulfatase, Sulfuric ester hydrolase
