1 article found
KAT6B (lysine acetyltransferase 6B), also known as MORF or MYST4, is a MYST-family histone acetyltransferase paralogous to KAT6A that acetylates histone H3K23. Heterozygous loss-of-function mutations cause two clinically distinct human syndromes — Say-Barber-Biesecker-Young-Simpson (SBBYSS) syndrome and genitopatellar syndrome — both characterized by severe intellectual disability and skeletal abnormalities.