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.
Synonyms: GCN1, GCN1 general control of amino acid synthesis yeast homolog like, GCN1 general control of amino acid synthesis 1 yeast like 1, GCN1 general control of amino acid synthesis 1 like 1, GCN1 general control of amino acid synthesis 1 like 1 yeast, GCN1 like protein 1, GCN1L, HsGCN1, GCN1L_HUMAN.