Galactosamine-6 sulfatase

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.^[5][6]

PDBOrtholog search: PDBe RCSB

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

External IDsOMIM: 612222; MGI: 1355303; HomoloGene: 55468; GeneCards: GALNS; OMA:GALNS - orthologs

Chr.Chromosome 16 (human)^[1]

Quick facts GALNS, Available structures ...

GALNS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4FDJ, 4FDI
Identifiers
Aliases	GALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A
External IDs	OMIM: 612222; MGI: 1355303; HomoloGene: 55468; GeneCards: GALNS; OMA:GALNS - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.3 Start 88,813,734 bp[1] End 88,856,970 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 123,304,981 bp[2] End 123,338,202 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube sperm right testis left testis stromal cell of endometrium pituitary gland anterior pituitary bronchial epithelial cell olfactory zone of nasal mucosa right adrenal gland Top expressed in right kidney granulocyte proximal tubule decidua human kidney epithelium of small intestine gastrula ileum stroma of bone marrow molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function N-acetylgalactosamine-4-sulfatase activity N-acetylgalactosamine-6-sulfatase activity sulfuric ester hydrolase activity catalytic activity hydrolase activity metal ion binding arylsulfatase activity Cellular component lysosome lysosomal lumen extracellular exosome extracellular region azurophil granule lumen Biological process metabolism keratan sulfate catabolic process neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 8: 123.3 – 123.34 Mb PubMed search [3] [4]
Wikidata
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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.^[6]