Aliases: ABC38, OABP, RLI, RLI1, RNASEL1, RNASELI, RNS4I
Chromosome No: 4
Chromosome Band: 4q31.21
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
Three rare and potentially damaging de novo missense variants in the ABCE1 gene have been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Satterstrom et al., 2020; Zhou et al., 2022; Trost et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified ABCE1 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.
Molecular Function
The protein encoded by this gene is a co-translational quality control factor involved in the No-Go Decay (NGD) pathway. Together with PELO and HBS1L, this gene is required for 48S complex formation from 80S ribosomes and dissociation of vacant 80S ribosomes, recognizes stalled ribosomes, and promotes dissociation of elongation complexes assembled on non-stop mRNAs; this triggers endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and to degrade damaged mRNAs as part of the No-Go Decay (NGD) pathway.
External Links
