UAP1

Chr 1

UDP-N-acetylglucosamine pyrophosphorylase 1

Also known as: AGX, AGX1, AGX2, SPAG2

NCBI Gene: 6675 ENSG00000117143 UniProt: Q16222 OMIM: 602862

UAP1 encodes UDP-N-acetylglucosamine pyrophosphorylase 1, which catalyzes the final step in UDP-N-acetylglucosamine biosynthesis and also pyrophosphorylates IRF3 to promote antiviral interferon responses. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.54), suggesting some tolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity and protein serine pyrophosphorylase activity. Involved in antiviral innate immune response and positive regulation of type I interferon production. Is active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

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Mechanism