CHCHD2
Description
The CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) is a protein-coding gene located on chromosome 7.
CHCHD2 is a protein encoded by the CHCHD2 gene in humans. It belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues forming disulfide linkages, defining a CHCH fold. Under stress, CHCHD2 translocates from the mitochondrial intermembrane space to the nucleus where it binds to the promoter of cytochrome oxidase 4I2 (COX4I2), a subunit of the electron transport chain. In conjunction with recombination signal sequence-binding protein J (RBPJ), CHCHD2 activates the oxygen responsive element of COX4I2 at 4% oxygen. Additionally, CHCHD2 is a negative regulator of mitochondrial apoptosis. When apoptotic stimuli occur, mitochondrial CHCHD2 levels decrease, allowing BCL2-associated X protein (BAX) to oligomerize and activate the caspase cascade. Pseudogenes of CHCHD2 are found on multiple chromosomes, and alternative splicing results in multiple transcript variants.
CHCHD2 is a transcription factor that binds to the oxygen responsive element of COX4I2, activating its transcription under both hypoxic (4% oxygen) and normoxic (20% oxygen) conditions.
CHCHD2 is also known as C7orf17, MIX17B, MNRR1, NS2TP, PARK22.
