Results for "KAT6A"
2 articles found
KAT6B (MORF or MYST4) — Histone Acetyltransferase and Epigenetic Regulator
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.
KAT6A (MOZ or MYST3) — Histone Acetyltransferase and Epigenetic Regulator
KAT6A (lysine acetyltransferase 6A), also known as MOZ (monocytic leukemia zinc finger protein), is a MYST-family histone acetyltransferase essential for hematopoietic stem cell self-renewal, craniofacial development, and neurogenesis. Mutations in KAT6A cause a syndromic intellectual disability, and chromosomal translocations involving KAT6A are recurrent drivers of acute myeloid leukemia.