EEF1A1

Chr 6

eukaryotic translation elongation factor 1 alpha 1

Also known as: CCS-3, CCS3, EE1A1, EEF-1, EEF1A, EF-Tu, EF1A, EF1A1

NCBI Gene: 1915 ENSG00000156508 UniProt: P68104

This protein catalyzes the GTP-dependent binding of aminoacyl-tRNAs to ribosomes during protein synthesis elongation and is highly intolerant to loss-of-function mutations (pLI 0.98). Mutations cause autosomal dominant developmental and epileptic encephalopathy with early onset seizures, developmental delay, and intellectual disability. The gene is essential for cellular protein synthesis, explaining the severe neurodevelopmental phenotype observed in affected children.

ResearchSummary from RefSeq, UniProt

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [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)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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