Galactosamine-6 sulfatase

GALNS
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A
External IDsOMIM: 612222; MGI: 1355303; HomoloGene: 55468; GeneCards: GALNS; OMA:GALNS - orthologs
Orthologs
SpeciesHumanMouse
Entrez

2588

50917

Ensembl

ENSG00000141012

ENSMUSG00000015027

UniProt

P34059

Q571E4

RefSeq (mRNA)

NM_000512
NM_001323543
NM_001323544

NM_001193645
NM_016722

RefSeq (protein)

NP_000503
NP_001310472
NP_001310473

NP_001180574
NP_057931

Location (UCSC)Chr 16: 88.81 – 88.86 MbChr 8: 123.3 – 123.34 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.