CHCHD2
Function
Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).
Involvement in disease
Parkinson disease 22
PARK22
An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
None
The gene represented in this entry may be involved in disease pathogenesis.
Cellular localization
- Nucleus
- Mitochondrion
- Mitochondrion intermembrane space
- Mainly localized in the intermembrane space.
Alternative names
C7orf17, AAG10, CHCHD2, Coiled-coil-helix-coiled-coil-helix domain-containing protein 2, Aging-associated gene 10 protein, HCV NS2 trans-regulated protein, NS2TP