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 |
|---|---|---|---|
| RS1004936255 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS112454391 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204440 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS118204448 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1204485789 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1221167717 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1276320689 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1301146300 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1301198698 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1303492021 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS137927658 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS138555898 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Cervical cancer |
| RS1389218771 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS140018158 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1401175486 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Congenital portosystemic shunt |
| RS140162658 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS140299014 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1404888504 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS141340188 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS141544939 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1422505598 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1427663367 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS142822371 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS144067930 | Health Risk | Conflicting classifications of pathogenicity | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS145131011 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1461992033 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1465096387 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS147599478 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1482155729 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1484497202 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Inborn genetic diseases |
| RS148565559 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS148709901 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS150582627 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |
| RS150734270 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS151165725 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1555523411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mucopolysaccharidosis, MPS-IV-A |
| RS1567509070 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1567519221 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1597515555 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS190707335 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1909818289 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1910644710 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS191519947 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS1967036891 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1967935603 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS200008960 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |
| RS200292757 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS200371805 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS200763834 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS201986622 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |