The RNF113A gene comprises a single exon that encodes a protein of 343 amino acids and is ubiquitously expressed. There are only a few pathogenic variants that have been reported in affected males – p.(Gln301*) in four patients from two unrelated families, p.(Cys279*) in one patient and p.(Gln302fs*12) in one patient, and thus all variants to date have predicted loss of function. The variants are not anticipated to cause nonsense-mediated decay due to the lack of an intron in the gene, but studies on p.(Gln301*) showed that the variant resulted a truncated protein that was still able to localize to the cell nucleus. The protein contains two conserved zinc finger domains - a C3H1-type zinc finger domain that is typically present in RNA-binding proteins involved in splicing and a C3HC4 RING-type zinc finger domain found in E3 ubiquitin ligases. Animal models have suggested that RNF113A is likely to be involved in neuronal differentiation. RNF113A is involved in DNA repair, splicing of premessenger RNA (mRNA) and the signaling mechanism for sensing DNA damage induced by alkylation.
RNF113A