Results for "intellectual disability"
3 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.
KAT8 (MOF or MYST1) — H4K16 Acetyltransferase, Dosage Compensation and Genome Stability
KAT8 (lysine acetyltransferase 8), also known as MOF (males absent on the first) or MYST1, is a MYST-family histone acetyltransferase and the principal enzyme responsible for histone H4 lysine 16 acetylation (H4K16ac) in mammals. Operating in the MSL and NSL complexes, KAT8 regulates dosage compensation, transcription, DNA repair, and stem cell maintenance, and mutations in its complex subunits cause human neurodevelopmental syndromes.
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.