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Gene : CHCHD2 Homo sapiens

Name  ? coiled-coil-helix-coiled-coil-helix domain containing 2 Cytological Location  7p11.2
Brief Description  coiled-coil-helix-coiled-coil-helix domain containing 2
Description  The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
  • synonyms:
  • PARK22,
  • AF078845,
  • MIX17B,
  • chromosome 7 open reading frame 17,
  • NS2TP,
  • mitochondrial nuclear retrograde regulator 1,
  • NM_016139,
  • C7orf17,
  • MNRR1,
  • MNRR1,
  • C7orf17,
  • MIX17B,
  • OTTHUMG00000129429,
  • uc003tsa.4,
  • MIX17 homolog B,
  • CHCHD2,
  • HGNC:21645
  • identifiers:
  • 51142,
  • ENSG00000106153,
  • CHCHD2

Genome feature

Region: gene ? Length: 4904  
Location: 7:56101573-56106476 reverse strand Cyto location: 7p11.2


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Disease

1 Diseases

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3740 SNPs

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results