KAT6B : lysine acetyltransferase 6B
Description
The KAT6B (lysine acetyltransferase 6B) is a protein-coding gene located on chromosome 10.
The KAT6B gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to particular locations on histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It is active in cells and tissues throughout the body, where it interacts with many other proteins. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.
KAT6B is a histone acetyltransferase that can regulate transcription both positively and negatively. It is essential for RUNX2-dependent transcriptional activation and might play a role in cerebral cortex development. KAT6B is part of the MOZ/MORF complex, which has histone H3 acetyltransferase activity.
KAT6B is also known as GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf.
Associated Diseases
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Genitopatellar syndrome
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- Coloboma
