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 |
|---|---|---|---|
| RS2543530263 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543531007 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543535308 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543573727 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543573812 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543573873 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543574319 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS368603508 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS371732068 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123441 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS753053516 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS768757999 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS771810111 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS775732598 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS776715466 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS886039376 | Health Risk | Likely pathogenic | — |
| RS911452920 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS979373729 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS997565505 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1028668536 | Health Risk | Pathogenic | Inborn genetic diseases, Mucopolysaccharidosis, MPS-IV-A |
| RS1177468816 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204439 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204443 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS118204444 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204449 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1245504167 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1281515662 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1287332192 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1295162107 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1312522259 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1330564240 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1355113466 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1363382746 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1382823339 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1408673965 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS143428106 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1444754604 | Health Risk | Pathogenic | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS146093755 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1468418435 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1487568635 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1567517083 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1567519109 | Health Risk | Pathogenic | GALNS-related disorder, GALNS-related disorder |
| RS1567526805 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1567530426 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1597559669 | Health Risk | Pathogenic | — |
| RS1910353907 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1910631809 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1910636198 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1912124497 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1967936031 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |