Galactosamine-6 sulfatase

From Wikipedia, the free encyclopedia
Jump to: navigation, search
GALNS
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A
External IDs OMIM: 612222 MGI: 1355303 HomoloGene: 55468 GeneCards: 2588
RNA expression pattern
PBB GE GALNS 206335 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000512
NM_001323543
NM_001323544

NM_001193645
NM_016722

RefSeq (protein)

NP_000503.1

NP_001180574.1
NP_057931.3

Location (UCSC) Chr 16: 88.81 – 88.86 Mb Chr 8: 122.58 – 122.61 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.[3][4]

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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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.