Molecular characteristics

KAT5 encodes a lysine acetyltransferase involved in regulation of gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation. It is part of a multi-protein complex named NuA4 which is essential for stem cell maintenance and renewal. KAT5 may play a role in epithelial-mesenchymal transition induction, a key process of embryo development. As such, KAT5 depletion impairs chromosomal segregation during mitosis and results in polyploidy. KAT5 is also critical in the regulation of the circadian clock cycle.

Three individuals with mutations in KAT5 have been identified. Variants result in a lost-of-function mechanism during development. Individuals with NEDFASB show de novo heterozygous missense variants in KAT5. NEDFASB is transmitted in an autosomal dominant manner.