NANS

Chr 9AR

N-acetylneuraminate synthase

Also known as: HEL-S-100, SAS, SEMDCG, SEMDG

The NANS protein is a sialic acid synthase that catalyzes the synthesis of phosphorylated forms of sialic acids, including N-acetylneuraminic acid and deaminoneuraminic acid, which are required for brain and skeletal development. Mutations cause spondyloepimetaphyseal dysplasia, Genevieve type, a skeletal dysplasia with autosomal recessive inheritance. This condition affects both the skeletal system and brain development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismAR1 OMIM phenotype
Clinical SummaryNANS
🧬
Gene-Disease Validity (ClinGen)
spondyloepimetaphyseal dysplasia, Genevieve type · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NANS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →