METTL7B is a 244 amino acid protein belonging to the methyltransferase superfamily. METTL7B is believed to have methyltransferase activity, wherein METTL7B catalyzes the transfer of a methyl group from one compound to another. The gene that encodes METTL7B maps to chromosome 12 which makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.