AlphaFold predicted structure
NANS · Q9NR45
Mean pLDDT
96.0/ 100
Very high
359 residues
Confidence breakdown
- Very high(≥ 90)97%
- Confident(70–90)1%
- Low(50–70)1%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NANS
Chr 9q22.33N-acetylneuraminate synthase
- Aliases:
- SAS
- MANE:
- ENST00000210444.6
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
spondyloepimetaphyseal dysplasia, Genevieve type
0.80neurodegenerative disease
0.50hereditary disease
0.19primary biliary cholangitis
0.08neoplasm
0.06anxiety disorder
0.05posterior cortical atrophy
0.05hepatocellular carcinoma
0.05mental disorder
0.04ovarian carcinoma
0.02
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
N-acetylneuraminate-9-phosphate synthase
Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phosphate (Man-6-P) to produce 3-deoxy-D-glycero-beta-D-galacto-non-2-ulopyranosonate 9-phosphate (KDN-9-P) (PubMed:10749855). Neu5Ac-9-P and KDN-9-P are the phosphorylated forms of sialic acids N-acetylneuraminic acid (Neu5Ac) and deaminoneuraminic acid (KDN), respectively (PubMed:10749855). Required for brain and skeletal development (PubMed:27213289)