The METTL23 gene codes for a protein, about which very little is known. However, it belongs to a family of methyltransferases that have been predicted to have a function in chaperone protein regulation, protein folding, DNA repair, histone modification, splicing factor regulation, and signal transduction. The METTL23 protein has recently been shown to be a functional interacting partner of GABPA, which is a transcriptional regulator. Disruption of gene expression has been shown to have functional effects on GABP, leading to altered expression of GABP target genes; THPO and ATP5B.
Mutations in METTL23 have been implicated in one form of intellectual disability. This could be due to abnormal methylation resulting in disrupted neuronal development via epigenetic and non-epigenetic pathways.