DISEASES

Disease-gene associations mined from literature

Literature associating CHCHD2 and frontotemporal dementia

CHCHD2 [ENSP00000378812]

Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; 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); Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins

Synonyms:  CHCHD2,  CHCHD2p,  hCHCHD2,  CHCHD2-001,  CHCHD2-002 ...

Linkouts:  STRING  Pharos  UniProt