NANS
N-acetylneuraminate synthase
Gene Information Card
| Symbol | NANS |
|---|---|
| Full Name | N-acetylneuraminate synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 55187 ncbi.nlm.nih.gov/gene/55187 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q9NR45 |
| OMIM ID | 605202 |
| HGNC ID | 19237 |
| Aliases | SAS, Sialic acid synthase, NeuAc synthase |
Description
The NANS gene encodes N-acetylneuraminate synthase, a key enzyme in the biosynthesis of sialic acids. Sialic acids are terminal sugars on glycoproteins and glycolipids involved in cell-cell interactions, immune modulation, and pathogen recognition. NANS catalyzes the condensation of N-acetylmannosamine-6-phosphate and phosphoenolpyruvate to form N-acetylneuraminate-9-phosphate. Mutations in NANS are associated with infantile-onset developmental delay and skeletal dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infantile-onset developmental delay and skeletal dysplasia | Loss-of-function mutations impair sialic acid synthesis, disrupting glycoprotein function and cellular signaling | OMIM #605202, ClinVar |
| Sialuria (OMIM 269921) | Overproduction of free sialic acid due to defective feedback inhibition of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), not directly NANS | OMIM 269921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Kidney | 7.5 | Medium |
| Lung | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| K562 | 7.4 | Medium expression |
| HepG2 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Trp) | Missense | Rare | Loss of function, reduced enzyme activity |
| c.1165G>A (p.Glu389Lys) | Missense | Rare | Loss of function, impaired sialic acid synthesis |
| c.1391G>A (p.Arg464His) | Missense | Rare | Loss of function, associated with developmental delay |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg334Trp, p.Glu389Lys) reduce or abolish NANS enzymatic activity, leading to sialic acid deficiency and multisystem developmental abnormalities.
Gain of Function (GOF)
No gain-of-function mutations reported in NANS.
Dominant Negative (DN)
No dominant-negative mutations reported in NANS.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylneuraminate synthase activity (GO:0003854) | • N-acetylneuraminate biosynthetic process (GO:0006054) |
| • cytoplasm (GO:0005737) |
Pathways
• Sialic acid metabolism (Reactome: R-HSA-4085001)
• Amino sugar and nucleotide sugar metabolism (KEGG: hsa00520)
Protein Summary
N-acetylneuraminate synthase is a 359-amino acid cytoplasmic enzyme that catalyzes the rate-limiting step in sialic acid biosynthesis. It forms a homodimer and requires manganese as a cofactor. The protein is ubiquitously expressed with highest levels in liver and brain. Structural studies reveal a TIM barrel fold typical of class I aldolases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANS Knockout HEK293 Cell Line | EDJ-KQ11393 | Human | 54187 | Details Get a Quote |
| NANS Knockout A-549 Cell Line | EDJ-KQ39602 | Human | 54187 | Details Get a Quote |
| NANS Knockout HCT 116 Cell Line | EDJ-KQ39603 | Human | 54187 | Details Get a Quote |
| NANS Knockout HeLa Cell Line | EDJ-KQ39604 | Human | 54187 | Details Get a Quote |
| NANS Knockout HAP1 Cell Line | EDC08021 | Human | 54187 | Details Get a Quote |
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