ENO2

Chr 12

enolase 2

Also known as: HEL-S-279, NSE

NCBI Gene: 2026 ENSG00000111674 UniProt: P09104

ENO2 encodes gamma-enolase, a glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate and has neurotrophic properties in central nervous system neurons. Mutations cause autosomal recessive glycolytic enzymopathy with hemolytic anemia, characterized by exercise intolerance, muscle weakness, and chronic hemolysis. The gene is moderately constrained against loss-of-function variants (LOEUF 0.471), reflecting its essential role in neuronal glucose metabolism.

ResearchSummary from RefSeq, UniProt

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]

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)

—

P/LP submissions

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P/LP missense

0.47

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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