Samiksha Jaiswal (Editor)

Galactosamine 6 sulfatase

Updated on
Edit
Like
Comment
Share on FacebookTweet on TwitterShare on LinkedInShare on Reddit
Species
  
Human

Entrez
  
2588

Human
  
Mouse

Ensembl
  
ENSG00000141012

Galactosamine-6 sulfatase

Aliases
  
GALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A

External IDs
  
OMIM: 612222 MGI: 1355303 HomoloGene: 55468 GeneCards: GALNS

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

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.

References

Galactosamine-6 sulfatase Wikipedia


Similar Topics