EIF3M

Chr 11

eukaryotic translation initiation factor 3 subunit M

Also known as: B5, GA17, PCID1, TANGO7, hfl-B5

NCBI Gene: 10480 ENSG00000149100 UniProt: Q7L2H7

The protein is a component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is essential for multiple steps in protein synthesis initiation, including ribosome assembly, mRNA recruitment, and translation of specific mRNAs involved in cell proliferation and apoptosis. Mutations cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.607), consistent with early-onset developmental abnormalities when both copies are disrupted.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]

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

0.61

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429