GCN1L1 is a 2,671 amino acid protein that is ubiquitously expressed and belongs to the GCN1 family. Functioning as a translation activator, GCN1L1 interacts with IMPACT to regulproteinate GCN2 kinase activity. GCN1L1 contains 24 HEAT repeats and is encoded by a gene that maps to human chromosome 12q24.23. Chromosome 12 encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.