EIF4H

Chr 7

eukaryotic translation initiation factor 4H

Also known as: WBSCR1, WSCR1, eIF-4H

NCBI Gene: 7458 ENSG00000106682 UniProt: Q15056

This protein stimulates RNA helicase activity during translation initiation and binds mRNA weakly. EIF4H is deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletion at 7q11.23. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.548), suggesting some intolerance to complete loss of function.

ResearchSummary from RefSeq, UniProt

This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [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

0.55

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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