title: SET domain containing protein 1A
text: # 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.
  
  