EIF1AX

Chr X

eukaryotic translation initiation factor 1A X-linked

Also known as: EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C

NCBI Gene: 1964 ENSG00000173674 UniProt: P47813

This gene encodes eukaryotic translation initiation factor 1A-X, an essential protein required for ribosome binding to mRNA and start codon recognition during protein synthesis. Mutations cause X-linked intellectual disability with variable features including developmental delay, seizures, and growth abnormalities. The gene is highly constrained against loss-of-function variants, and inheritance follows an X-linked pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [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)

—

P/LP submissions

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P/LP missense

0.39

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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