Proteins consist of chains of amino acids. Disease-causing mutations in CHD5 can lead to a change in the amino acid composition of CHD5 (missense substitutions), to reduced expression levels of the protein or to a shorter or truncated version of the protein (duplications, deletions or nonsense mutations). When this occurs, the protein cannot exert its function and regulate brain development properly, thus causing the disease.
The exact molecular mechanism that causes the disease is yet to be elucidated.
CHD5