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 |
|---|---|---|---|
| RS749891007 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS750739641 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Inborn genetic diseases |
| RS752339162 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS752937387 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS753249472 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS754616917 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS754731091 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS75552025 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS755832705 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS758439379 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS759590432 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS760239741 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS760260706 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS760892654 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS761385192 | Health Risk | Conflicting classifications of pathogenicity | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS761725425 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS762154863 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS763263800 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS764070268 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS768334388 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS770239604 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS770908172 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS773509699 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS773933657 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS775300515 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS777179922 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS77826920 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS786205899 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS79146426 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS794726887 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS794727625 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS866140272 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS886039377 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS886042058 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS886052456 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS948490589 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1160480473 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1163264200 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204435 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204438 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1223848239 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1228027865 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1263679818 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1267791852 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1288895691 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1296755011 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1314520034 | Health Risk | Likely pathogenic | — |
| RS1344555845 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1352162269 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1367462378 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |