GALNS
Galactosamine (N-Acetyl)-6-Sulfatase
Gene Information Card
| Symbol | GALNS |
|---|---|
| Full Name | Galactosamine (N-Acetyl)-6-Sulfatase |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 2588 ncbi.nlm.nih.gov/gene/2588 |
| Ensembl ID | ENSG00000141012 |
| UniProt ID | P34059 |
| OMIM ID | 612222 |
| HGNC ID | 4122 |
| Aliases | GALNAC6S, MPS4A, GALNS |
Description
The GALNS gene encodes the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (galactosamine-6-sulfatase), which catalyzes the removal of sulfate groups from keratan sulfate and chondroitin-6-sulfate. Deficiency of this enzyme leads to the accumulation of glycosaminoglycans, causing Morquio A syndrome (mucopolysaccharidosis IVA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Morquio A syndrome (Mucopolysaccharidosis IVA) | Loss-of-function mutations in GALNS lead to deficient enzyme activity, causing accumulation of keratan sulfate and chondroitin-6-sulfate in lysosomes, resulting in skeletal dysplasia, corneal clouding, and cardiac abnormalities. | ClinVar, OMIM |
| Mucopolysaccharidosis IVA, mild form | Hypomorphic mutations with residual enzyme activity result in a milder phenotype with later onset and slower progression. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HEK 293 | 6.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.860C>T (p.Pro287Leu) | Missense | Common | Reduced enzyme activity, associated with Morquio A |
| c.1156C>T (p.Arg386Cys) | Missense | Frequent | Severe phenotype |
| c.901G>A (p.Gly301Arg) | Missense | Recurrent | Loss of function |
| c.1118+1G>A | Splice site | Rare | Splicing defect, null allele |
Mutation functional classification
Loss of Function (LOF)
Most GALNS mutations result in loss of enzymatic activity, leading to lysosomal accumulation of glycosaminoglycans and Morquio A syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for GALNS.
Dominant Negative (DN)
No dominant-negative effects described; GALNS deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylgalactosamine-6-sulfatase activity | • lysosome |
| • sulfur compound metabolic process | • glycosaminoglycan catabolic process |
Pathways
• Glycosaminoglycan degradation (KEGG: hsa00531)
• Lysosome (KEGG: hsa04142)
Protein Summary
Galactosamine-6-sulfatase is a lysosomal enzyme that hydrolyzes the 6-sulfate groups of N-acetyl-D-galactosamine 6-sulfate and galactose 6-sulfate in keratan sulfate and chondroitin-6-sulfate. The protein is synthesized as a precursor and processed to a mature form. Deficiency causes Morquio A syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNS Knockout HEK293 Cell Line | EDJ-KQ3354 | Human | 2588 | Details Get a Quote |
| GALNS Knockout A-549 Cell Line | EDJ-KQ25009 | Human | 2588 | Details Get a Quote |
| GALNS Knockout HCT 116 Cell Line | EDJ-KQ25010 | Human | 2588 | Details Get a Quote |
| GALNS Knockout HeLa Cell Line | EDJ-KQ25011 | Human | 2588 | Details Get a Quote |
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