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 |
|---|---|---|---|
| RS1967945316 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS1967947276 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142992372 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142992407 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993804 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993846 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142993865 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142995760 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142995871 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142999142 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2142999219 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001121 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001135 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001391 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001400 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143001706 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002428 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143002464 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143004665 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005452 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2143005467 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2508280614 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2508363673 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2508366215 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543444470 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543476096 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543530187 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543549172 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543550306 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543568206 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543579525 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543580299 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543581245 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS2543660049 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS3743544 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS376268211 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123429 | Health Risk | Pathogenic | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A |
| RS398123430 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS398123437 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, GALNS-related disorder |
| RS398123439 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS537013895 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS745523154 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS746086649 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome |
| RS746756997 | Health Risk | Pathogenic | Inborn genetic diseases, Mucopolysaccharidosis, MPS-IV-A |
| RS746862066 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS757870208 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS761455237 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS761850746 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS764529662 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |
| RS765608680 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis |