| Attribute | Value |
|---|---|
| Gene Symbol | GALNS |
| Full Name | Galactosamine-6-Sulfatase |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 2581 |
| OMIM ID | 613898 |
| Ensembl ID | ENSG00000162836 |
| UniProt ID | F5H6R4 |
| Associated Diseases | Morquio A Disease, Mucopolysaccharidosis IVA |
The GALNS gene encodes galactosamine-6-sulfatase (also called GALNS), a lysosomal enzyme that catalyzes the hydrolysis of galactosamine-6-sulfate from the non-reducing end of keratan sulfate and chondroitin-6-sulfate. This enzyme is essential for the degradation of glycosaminoglycans (GAGs) in lysosomes.
GALNS is a sulfatase that requires post-translational modification (formylation of a cysteine to formylglycine) for catalytic activity.
GALNS deficiency causes Morquio A disease, a mucopolysaccharidosis characterized by skeletal abnormalities:
GALNS is expressed in most tissues: