C7orf17; MNRR1; NS2TP; PARK22
The CHCHD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Parkinson’s disease 22 (PARK22) (PMID: 25662902, 26067110).
Order this gene as a single gene test.
Invitae tests that include this gene:
The CHCHD2 gene encodes a coiled-coil-helix-coiled-coil-helix protein that localizes to the intermembrane space of the mitochondria. It acts as a transcription factor binding and activating the oxygen responsive element of the COX4I2 gene, contributing to the regulation of COX4I2 expression in response to oxygen changes. CHCHD2 also inhibits mitochondria-mediated apoptosis.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|