GALNS Chromosome 16
Galactosamine (N-acetyl)-6-sulfatase
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000141012
Associated Conditions (12)
Mucopolysaccharidosis
MPS-IV-A
Morquio syndrome
Cervical cancer
Ovarian serous cystadenocarcinoma
Congenital portosystemic shunt
Inborn genetic diseases
GALNS-related disorder
Abnormality of metabolism/homeostasis
Abnormality of the skeletal system
Melanoma
Skeletal dysplasia
Key Variants
RS1004936255
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS112454391
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS118204440
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS118204448
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Health Risk
RS1204485789
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Health Risk
RS1221167717
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Health Risk
RS1276320689
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS1301146300
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS1301198698
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Health Risk
RS1303492021
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Health Risk
RS137927658
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis
Health Risk
RS138555898
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-A, Cervical cancer
Health Risk
All Variants (367)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398123440 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS559063128 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS569725936 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Skeletal dysplasia |
| RS577334837 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS727503946 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS747805226 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS752039956 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS753051547 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS760300454 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS763184657 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS768664270 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS770053354 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS772413313 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS778286877 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS781439830 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS894525161 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS975409254 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |