SET domain containing protein 1A
# SET domain containing protein 1A

SET domain containing protein 1A (SETD1A) is a protein that serves as a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at the lys4 residue (K4). SETD1A is highly homologous with SETDB1 but has a distinct subnuclear distribution.

## Clinical significance

Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021, and early-onset epilepsy with or without developmental delay, first described in 2019.

According to a review published in 2018, mutations of the SETD1A gene may increase the risk of schizophrenia, based on studies available up to that date.

## History

The protein was first described in human in 2003 by Wysocka et al.

