METTL23 belongs to a family of methyltransferase like proteins (METTL) that harbor S-adenosyl methionine binding domain for methylation reactions. They transfer methyl group to various substrates including DNA, RNA, proteins, and lipids.
Reiff et al. (2014) identified a frameshift homozygous variant (c.169_172delCACT; p.His57Valfs*11) in METTL23. They showed that METTL23 is expressed at low-to-moderate levels in the developing human brain, localizing to both the cytoplasm and the nucleus. They also showed that METTL23 interacts with the alpha subunit of transcription factor subunit GABP (GA-binding protein) and this complex regulates the expression of crucial target genes. Bernkopf et al. (2014) reported a homozygous frameshift variant (c.281_285delAAGAT; p.Gln94Hisfs*6) and a nonsense homozygous variant (c.397C>T; p.Gln133*) in two affected families. Almannai et al.(2020) reported four variants in METTL23, (c.322+2T>C, c.470_471delTT(p.L157RfsX4), c.407+1G>C, and c.449T>C(p.Met150Thr))
METTL23