Molecular characteristics

KAT5 encodes a protein involved in regulation of gene expression, DNA repair, chromatin remodeling, cell death, and cell proliferation. KAT5 is essential for embryo development and is critical in the regulation of the sleep cycle.

Three individuals with mutations in KAT5 have been identified. Distinct variants in KAT5 were identified in individuals which parents didn’t carry the mutation (de novo).  NEDFASB is transmitted in an autosomal dominant manner which means that only one copy of the gene must carry the mutations for the disease to occur.