EIF1AY

Chr Y

eukaryotic translation initiation factor 1A Y-linked

Also known as: eIF-4C

NCBI Gene: 9086 ENSG00000198692 UniProt: O14602

The protein is a component of the ribosomal translation initiation machinery that facilitates mRNA scanning, start codon recognition, and assembly of the 80S ribosome complex for protein synthesis. This gene is located on the Y chromosome and follows Y-linked inheritance, passing from father to son. Currently, no specific diseases have been definitively associated with mutations in this gene.

ResearchSummary from RefSeq, UniProt

This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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

1.18

LOEUF

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Mechanism

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