GALNS Chromosome 16
Galactosamine (N-acetyl)-6-sulfatase
Upload your DNA to see your personal genotypes for variants in GALNS.
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 |
|---|---|---|---|
| RS767131589 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS767319971 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS769669958 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS770815269 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS771531650 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS772656696 | Health Risk | Pathogenic | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS773746427 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS779545826 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS911877265 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1165218506 | Health Risk | Pathogenic/Likely pathogenic | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS118204437 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS118204441 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS118204442 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204446 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS118204447 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1199639828 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1209154325 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Morquio syndrome, Mucopolysaccharidosis |
| RS1275386976 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Melanoma |
| RS1283377907 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1308500116 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1328983959 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1348149236 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1426905479 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1468285336 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1478665723 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1480024542 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS149239881 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mucopolysaccharidosis, MPS-IV-A |
| RS1567538216 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1597575641 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1910352953 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1910359431 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1910973930 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1912290012 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1966945369 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1967935882 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS199638097 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS200374326 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2142993764 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142995810 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001165 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |
| RS2143001422 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002474 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005067 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143013573 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543548949 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543661181 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS267606838 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS372893383 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS373739301 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123438 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Skeletal dysplasia |