Galactosamine-6 sulfatase

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Galactosamine (N-acetyl)-6-sulfatase
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GALNS ; GALNAC6S; GAS; GalN6S; MPS4A
External IDs OMIM612222 MGI1355303 HomoloGene55468 GeneCards: GALNS Gene
EC number 3.1.6.4
RNA expression pattern
PBB GE GALNS 206335 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2588 50917
Ensembl ENSG00000141012 ENSMUSG00000015027
UniProt P34059 Q571E4
RefSeq (mRNA) NM_000512 NM_001193645
RefSeq (protein) NP_000503 NP_001180574
Location (UCSC) Chr 16:
88.88 – 88.92 Mb
Chr 8:
122.58 – 122.61 Mb
PubMed search [1] [2]

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.[1][2]

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.[2]

References[edit]

  1. ^ Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al. (Jan 1992). "Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase". Biochem Biophys Res Commun 181 (2): 677–83. doi:10.1016/0006-291X(91)91244-7. PMID 1755850. 
  2. ^ a b "Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Iuiuyih78

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