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MRD23 is a rare genetic syndrome caused by mutations (typically loss-of-function or haploinsufficiency) in the gene, located on the short arm of chromosome 3 at position 3p25.3. The SETD5 protein is predicted to function as a histone methyltransferase , an enzyme that modifies the structure of chromatin, thereby influencing the expression of many other genes. Mutations in SETD5 disrupt this epigenetic regulation, leading to the clinical features of the syndrome.

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