Target intelligence / Profile preview

N-acetylneuraminic acid synthase (NANS)

Target
NANS
Molecular classification
Enzyme, Transferase (specifically, aryl or alkyl group transferase)
01

Overview

N-acetylneuraminic acid synthase (NANS) is a cytoplasmic enzyme essential for the biosynthesis of sialic acid, a key monosaccharide involved in the modification of glycoproteins and glycolipids[1][2]. NANS catalyzes the condensation of phosphoenolpyruvate with N-acetylmannosamine 6-phosphate to produce N-acetylneuraminic acid-9-phosphate, an important step in the endogenous production of sialic acids utilized for cell surface modification, especially in neural tissues[1][2][4]. Proper NANS function is required for embryonic brain and skeletal development, with deficiency leading to congenital disorders of glycosylation characterized by developmental delay, neurocognitive impairment, and skeletal anomalies[1][2]. Structurally, NANS contains an N-terminal TIM barrel and a C-terminal antifreeze-like domain required for catalytic and substrate-binding activity[2]. No interacting drugs or therapeutic agents are known; pathological roles are primarily due to loss-of-function mutations rather than pharmacological modulation.

Other names
N-acetylneuraminate synthaseN-acetylneuraminate-9-phosphate synthaseSialic acid synthaseSialic acid phosphate synthase3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthaseN-acetylneuraminic acid phosphate synthaseHEL-S-100SEMDCGSEMDGSASepididymis secretory protein Li 100sialic acid synthase
02

Biological functions

Sialic acid biosynthesisProtein and lipid glycosylationBrain developmentSkeletal developmentCell migrationNeural pathfindingSynaptic activityNeurite outgrowth and regeneration
03

Disease associations

Congenital disorder of glycosylation (NANS-CDG)Developmental delaySkeletal dysplasiaNeurodevelopmental disordersOther glycosylation disorders
04

Safety considerations

Deficiency or loss-of-function mutations result in severe developmental disorders (not relevant to drug therapy but critical in genetic/diagnostic context)
05

Biomarkers

Sialic acid levels (for NANS deficiency/biomarker potential in CDG)

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