EIF3H

Chr 8

eukaryotic translation initiation factor 3 subunit H

Also known as: EIF3S3, eIF3-gamma, eIF3-p40

NCBI Gene: 8667 ENSG00000147677 UniProt: O15372 OMIM: 603912

The EIF3H protein is a component of the eukaryotic translation initiation factor 3 complex, which is essential for initiating protein synthesis by facilitating ribosome assembly and mRNA recruitment. Mutations in this gene cause autosomal recessive intellectual developmental disorder with seizures, hypotonia, and brain abnormalities, with onset in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), and the disorder primarily affects the central nervous system with developmental delays and neurological manifestations.

OMIM ResearchSummary from RefSeq, UniProt

Enables metal-dependent deubiquitinase activity. Contributes to translation initiation factor activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and translational initiation. Located in extracellular exosome and membrane. Part of eukaryotic translation initiation factor 3 complex. Implicated in breast cancer; prostate cancer; and prostate carcinoma. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.59

LOEUF

Mechanism· predicted