Aliases: PAB1, PABP, PABP1, PABPC2, PABPL1
Chromosome No: 8
Chromosome Band: 8q22.3
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 6
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 3
Evidence score: 3
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Relevance to Autism
De novo missense variants in the PABPC1 gene have been identified in three ASD probands (De Rubeis et al., 2014; Krupp et al., 2017; Guo et al., 2019), as well as in two individuals with unspecified developmental disorders (Kaplanis et al., 2020). Wegler et al., 2022 described four probands with an overlapping phenotype of developmental delay with expressive speech delay, seizures, and behavioral issues including autistic features and heterozygous de novo variants that clustered in the PABP domain of PABPC1; functional analysis of the three missense variants identified in this report demonstrated reduced interaction between PABPC1 and PAIP2 and a failure to rescue the decrease of neural progenitor cells caused by Pabpc1 knockdown in the mouse brain.
Molecular Function
This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay.
External Links
