EIF3L

Chr 22

eukaryotic translation initiation factor 3 subunit L

Also known as: EIF3EIP, EIF3S11, EIF3S6IP, HSPC021, HSPC025, MSTP005

NCBI Gene: 51386 ENSG00000100129 UniProt: Q9Y262

EIF3L encodes a component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis initiation, mRNA recruitment to ribosomes, and regulation of translation for genes involved in cell proliferation and apoptosis. The gene is highly constrained against loss-of-function variants (pLI 0.84, LOEUF 0.37), but no established Mendelian diseases have been definitively associated with EIF3L mutations in current clinical literature. Given the fundamental role in translation and high constraint metrics, pathogenic variants would likely follow an autosomal dominant inheritance pattern if disease associations are established.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in translational initiation and viral translational termination-reinitiation. Located in membrane. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

0.37

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429