ENO1

Chr 1

enolase 1

Also known as: ENO1-IT1, ENO1L1, HEL-S-17, MPB1, NNE, PPH

NCBI Gene: 2023 ENSG00000074800 UniProt: P06733

Alpha-enolase catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and serves as a structural lens protein (tau-crystallin) in its monomeric form. Mutations cause ENO1 deficiency, an autosomal recessive disorder presenting with hemolytic anemia and intellectual disability. The gene shows minimal constraint to loss-of-function variants, consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

Active trials

273

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

Mechanism· predicted

Some data sources returned errors (1)