Gene | Function | Cellular localization | Genetic evidence | Reference |
---|---|---|---|---|
Methyl CpG binding protein 2 (Mecp2) | Transcriptional repressor | Nuclear | Causes Rett syndrome, which shares some symptom domains with autism | [37] |
Myocyte-specific enhancer factor 2a (Mef2a) | Transcription factor | Nuclear | Rare single gene mutation in downstream targets associated with Autism symptom domains | [32] |
Myocyte-specific enhancer factor 2d (Mef2d) | Transcription factor | Nuclear | Rare single gene mutation in downstream targets associated with Autism symptom domains | [32] |
Fragile X mental retardation 1 (Fmr1) | RNA binding protein | Nuclear | Causes Fragile X, which shares some symptom domains with autism | [38] |
Neuroligin-1 (Nlgn1) | Synaptic remodeling | Synaptic | Rare single gene mutation associated with autism symptom domains | [30] |
Neuroligin-3 (Nlgn3) | Synaptic remodeling | Synaptic | Rare single gene mutation associated with autism symptom domains | [31] |
Phosphatase and tensin homolog (Pten) | Regulator of the cell cycle | Nuclear and synaptic | Causes Cowden syndrome which shares some symptom domains with autism | |
SH3 and multiple ankyrin repeat domains 3 (Shank3) | Scaffold protein | Synaptic | Rare single gene mutation associated with autism symptom domains |