SETD1A
Protein
From Wikipedia, the free encyclopedia
Histone-lysine N-methyltransferase 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 lysine 4 residue (K4). SETD1A is highly homologous with SETDB1 but has a distinct subnuclear distribution.[5]
Clinical significance
Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021,[6] and early-onset epilepsy with or without developmental delay, first described in 2019.[7]
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.[8] A later review from 2024 found that SETD1A mutations been associated with development of schizophrenia at a later age.[9] Loss of function (LoF) variants in SETD1A and epigenetic dysregulations of the gene are therefore thought to play an important role in the pathogenesis of schizophrenia.[10]
History
The protein was first described in man in 2003 by Wysocka et al.[11]
See also
- Methyllysine
- SETDB1 - highly homologous to SETD1A
- SET domain
