| Modification Notes |
MondoA, also known as MLXIP (MLX interacting protein), KIAA0867 or MIR, is a 919 amino acid protein that localizes to the nucleus and the cytoplasm, as well as to the outer mitochondrial membrane, and contains one bHLH domain. Expressed in a variety of tissues with highest expression in skeletal muscle, MondoA functions as a dimeric structure that binds DNA at the canonical E box sequence 5'-CACGTG-3' and is involved in transcriptional activation and glucose-responsive gene regulation. Multiple isoforms of MondonA exist due to alternative splicing events. The gene encoding MondoA maps to human chromosome 12, which 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. |