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GeneE
0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GALNS
galactosamine (N-acetyl)-6-sulfatase
Chromosome 16 · 16q24.3
NCBI Gene: 2588Ensembl: ENSG00000141012.14HGNC: HGNC:4122UniProt: P34059
87PubMed Papers
21Diseases
0Drugs
307Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomesulfuric ester hydrolase activityN-acetylgalactosamine-6-sulfatase activitychondroitin sulfate proteoglycan catabolic processmucopolysaccharidosis type 4Amucopolysaccharidosis type 4genetic disorderskeletal dysplasia
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

galactosamine (N-acetyl)-6-sulfatase

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
mucopolysaccharidosis type 4AOpen Targets
0.87Strong
mucopolysaccharidosis type 4Open Targets
0.74Strong
genetic disorderOpen Targets
0.52Moderate
skeletal dysplasiaOpen Targets
0.41Moderate
mucopolysaccharidosisOpen Targets
0.37Weak
Abnormality of metabolism/homeostasisOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.27Weak
VertigoOpen Targets
0.15Weak
sunburnOpen Targets
0.13Weak
adenine phosphoribosyltransferase deficiencyOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
FRAXF syndromeOpen Targets
0.06Suggestive
skin basal cell carcinomaOpen Targets
0.06Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
Mucopolysaccharidosis 4AUniProt
Pathogenic Variants307
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|not provided
★★☆☆2026→ Residue 259
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|not provided
★★☆☆2026→ Residue 301
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome
★★☆☆2026→ Residue 216
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)Pathogenic
not provided|Morquio syndrome|Mucopolysaccharidosis, MPS-IV-A
★★☆☆2026→ Residue 391
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome
★★☆☆2026→ Residue 290
NM_000512.5(GALNS):c.281G>A (p.Arg94His)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome
★★☆☆2026→ Residue 94
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome
★★☆☆2026→ Residue 139
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|not provided|Morquio syndrome
★★☆☆2026→ Residue 386
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|GALNS-related disorder
★★☆☆2026→ Residue 61
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)Pathogenic
Mucopolysaccharidosis, MPS-IV-A
★★☆☆2026→ Residue 523
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)Pathogenic
Mucopolysaccharidosis, MPS-IV-A
★★☆☆2025→ Residue 350
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome
★★☆☆2025→ Residue 107
NM_000512.5(GALNS):c.1243-2A>CLikely pathogenic
Mucopolysaccharidosis, MPS-IV-A
★★☆☆2025
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|not provided
★★☆☆2025→ Residue 48
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|not provided
★★☆☆2025→ Residue 113
NM_000512.5(GALNS):c.1142del (p.Pro381fs)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|Inborn genetic diseases
★★☆☆2025→ Residue 381
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)Pathogenic
Morquio syndrome|Mucopolysaccharidosis, MPS-IV-A|GALNS-related disorder
★★☆☆2025→ Residue 116
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)Pathogenic
Mucopolysaccharidosis, MPS-IV-A
★★☆☆2025→ Residue 422
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-A
★★☆☆2025→ Residue 392
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)Pathogenic
Mucopolysaccharidosis, MPS-IV-A|not provided
★★☆☆2025→ Residue 159
View on ClinVar ↗
Related Genes
SUMF1Protein interaction96%NEU1Protein interaction92%APRTProtein interaction90%ARSAProtein interaction83%ZNF276Protein interaction79%CTSAProtein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
58%
Liver
52%
Ovary
43%
Heart
31%
Brain
27%
Gene Interaction Network
Click a node to explore
GALNSSUMF1NEU1APRTARSAZNF276CTSA
PROTEIN STRUCTURE
Preparing viewer…
PDB4FDI · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.83–1.25]
RankingsWhere GALNS stands among ~20K protein-coding genes
  • #5,477of 20,598
    Most Researched87
  • #196of 5,498
    Most Pathogenic Variants307 · top 5%
  • #13,194of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedGALNS
Sources retrieved0 papers
Response time—