GALNS — galactosamine (N-acetyl)-6-sulfatase

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

87PubMed Papers

#5,465 · top 28% of 19K genes

21Diseases

top 15%

0Drugs

307Pathogenic Variants

top 4%

OMIM Disease GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

extracellular exosomesulfuric ester hydrolase activityN-acetylgalactosamine-6-sulfatase activitychondroitin sulfate proteoglycan catabolic processmucopolysaccharidosis type 4Amucopolysaccharidosis type 4genetic disorderskeletal dysplasia

AI Summary

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galactosamine (N-acetyl)-6-sulfatase

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

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.1049T>C (p.Leu350Pro)Pathogenic

Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome

★★☆☆2026→ Residue 350

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|Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome

★★☆☆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.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.337A>T (p.Ile113Phe)Pathogenic

Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome|not provided

★★☆☆2025→ Residue 113

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.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

Tissue Expression6 tissues

Bone Marrow

100%

Lung

58%

Liver

52%

Ovary

43%

Heart

31%

Brain

27%

Gene Interaction Network5 neighbors

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Structure2 PDB hits

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PDB4FDI · 2.20 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.25LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF1.02 [0.83–1.25]

Rankings3 dim

Where GALNS stands among ~20K protein-coding genes

#5,477of 20,598
Most Researched87
#197of 5,509
Most Pathogenic Variants307 · top 5%
#13,194of 17,882
Most Constrained (LOEUF)1.25