Most reported mutations are missense, although some alleles resulting in frameshifts and/or premature stops have also been described. Suspected mechanisms include hypomorphic alleles that affect protein structure, and those that affect function, including protein-protein interactions. Additional functional studies are needed to determine molecular mechanisms for individual variants. Functional studies are critical for individual mutations, as the gene is located on the X chromosome and statistical analysis of enrichment of mutations is not possible.
ZMYM3