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EIF5A

Protein-coding gene in humans

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Eukaryotic translation initiation factor 5A-1 is a protein that in humans is encoded by the EIF5A gene.

It is the only known protein to contain the unusual amino acid hypusine [Nε-(4-amino-2-hydroxybutyl)-lysine], which is synthesized on eIF5A at a specific lysine residue from the polyamine spermidine by two catalytic steps.

EF-P is the bacterial homolog of eIF5A, which is modified post-translationally in a similar but distinct way. Both proteins are believed to catalyze peptide bond formation and help resolve ribosomal stalls, making them elongation factors despite the "initiation factor" name originally assigned.

01Faundes-Banka syndrome

Germline deleterious heterozygous EIF5A variants cause Faundes-Banka syndrome. This rare human disorder is characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features. It was named after Víctor Faundes and Siddharth Banka, two geneticists who discovered the condition.

Long ear is seen in patients with Faundes-Banka syndrome.
Long ear is seen in patients with Faundes-Banka syndrome.
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This article is adapted from the Wikipedia article EIF5A, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.

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