GNS Gene (Glucosamine (N-Acetyl)-6-Sulfatase)
A comprehensive biomedical SEO resource for the GNS gene, covering its genomic context, protein function, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | GNS |
|---|---|
| Full Name | Glucosamine (N-Acetyl)-6-Sulfatase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.3 |
| NCBI Gene ID | 2799 ncbi.nlm.nih.gov/gene/2799 |
| Ensembl ID | ENSG00000135677 |
| UniProt ID | P15586 |
| OMIM ID | 607664 |
| HGNC ID | 4433 |
| Aliases | G6S, MPS3D, SFMD |
Description
The GNS gene encodes glucosamine (N-acetyl)-6-sulfatase, a lysosomal enzyme that catalyzes the hydrolysis of N-acetyl-D-glucosamine 6-sulfate residues from heparan sulfate. Deficiency of this enzyme leads to mucopolysaccharidosis type IIID (MPS IIID, Sanfilippo syndrome D), a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration, coarse facial features, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis type IIID (MPS IIID, Sanfilippo syndrome D) | Loss-of-function mutations in GNS cause deficiency of glucosamine (N-acetyl)-6-sulfatase, leading to accumulation of heparan sulfate in lysosomes. | ClinVar, OMIM |
| Sanfilippo syndrome D | Same as MPS IIID; biallelic pathogenic variants in GNS result in impaired heparan sulfate degradation. | OMIM #252940 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.5 | Medium |
| Brain | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.1 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.5 | Neuroblastoma cell line |
| A549 | 8.0 | Lung carcinoma cell line |
| HEK 293 | 7.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374Ter) | Nonsense | Reported in MPS IIID | Loss of function |
| c.1099G>A (p.Gly367Arg) | Missense | Reported in MPS IIID | Loss of function |
| c.1558C>T (p.Arg520Trp) | Missense | Reported in MPS IIID | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic variants in GNS are loss-of-function, leading to reduced or absent enzyme activity and heparan sulfate accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported for GNS.
Dominant Negative (DN)
No dominant-negative mutations reported for GNS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosaminoglycan degradation (KEGG: hsa00531)
• Lysosome (KEGG: hsa04142)
• Heparan sulfate degradation (Reactome: R-HSA-1638091)
Protein Summary
Glucosamine (N-acetyl)-6-sulfatase is a lysosomal enzyme of 552 amino acids (UniProt P15586) that removes 6-sulfate groups from N-acetyl-D-glucosamine residues in heparan sulfate. It is synthesized as a precursor and processed to a mature form. Deficiency causes MPS IIID.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNS Knockout HEK293 Cell Line | EDJ-KQ2252 | Human | 2799 | Details Get a Quote |
| GNS Knockout A-549 Cell Line | EDJ-KQ23935 | Human | 2799 | Details Get a Quote |
| GNS Knockout HCT 116 Cell Line | EDJ-KQ23936 | Human | 2799 | Details Get a Quote |
| GNS Knockout HeLa Cell Line | EDJ-KQ23937 | Human | 2799 | Details Get a Quote |
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