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 |
|---|---|---|---|
| RS2142966615 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142992401 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993806 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993863 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993896 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142995734 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142999169 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2142999197 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2142999202 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142999207 | Health Risk | Conflicting classifications of pathogenicity | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS2142999330 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001162 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001210 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001380 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001744 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002317 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002331 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002341 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2143002376 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002437 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002473 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143004596 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2143005072 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2143005083 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005086 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005523 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005530 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2143013504 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143013538 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS2143013681 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2508364664 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS370586494 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS371429653 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS371459975 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS374619390 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS374850312 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS375098009 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS377067312 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |
| RS398123431 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123432 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123434 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123435 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS542835085 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS549597016 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS552476248 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS556060696 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of metabolism/homeostasis, Mucopolysaccharidosis, MPS-IV-A |
| RS565875595 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS61742258 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS746949976 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS749578474 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |