C16orf90 orthologs have a relatively high mutation rate as seen in the graph to the right comparing C16orf90 with fibrinopeptides, hemoglobin, and cytochrome C. The orthologs are sorted by increasing date of divergence and sequence similarity. C16orf90 is limited to mammals but is found in monotremes and marsupials indicating the gene entered the genome around 180 million years ago. In research, the sequence has been identified as containing a possible pathogenic recessive variant (K53N) for various intellectual disabilities among 31 others.. The protein is suspected to be an adaptor/cofactor that binds to other molecules. In this case a non-homologous substitution could change binding to other molecules and potentially cause intellectual disability, inguinal hernia, frontal upsweep of hair, macrotia, high palate, hypertonia, hyperreflexia, abnormality of the cerebrum, or vitamin D deficiency