SETD1A
Histone-lysine N-methyltransferase SETD1A is a protein that serves as a component of a histone methyltransferase complex that produces mono-, di-, and trimethylated histone H3 at the lysine 4 residue. 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 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. A later review from 2024 found that SETD1A mutations been associated with development of schizophrenia at a later age. Loss of function variants in SETD1A and epigenetic dysregulations of the gene are therefore thought to play an important role in the pathogenesis of schizophrenia.