Aliases: EIF-5A1, FABAS, eIF-4D, eIF5AI,EIF5A
Chromosome No: 17
Chromosome Band: 17p13.1
Genetic Category: Rare single gene variant-Syndromic/Functional
Associated Syndrome(s): Faundes-Banka syndrome
ASD Reports: 4
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
De novo damaging missense variants in the EIF5A gene have been identified in ASD probands from the Autism Sequencing Consortium and the BARAKA-Qatar Study (Satterstrom et al., 2020; Abdi et al., 2023). One of the seven individuals with Faundes-Banka syndrome described in Faundes et al., 2021 was reported to have autism spectrum disorder and ADHD; the EIF5A missense variant identified in this individual (p.Glu122Lys) was experimentally shown to reduce eIF5A-ribosome interactions in polysome profiling assays.
Molecular Function
The protein encoded by this gene enables U6 snRNA binding activity and protein N-terminus binding activity and is involved in several processes, including cellular response to virus, positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator, and tumor necrosis factor-mediated signaling pathway. De novo heterozygous mutations in this gene are responsible for Faundes-Banka syndrome (OMIM 619376), an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).
External Links
