Aliases for CHCHD4 Gene
- Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4 2 3 5
- Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 4 3 4
- MIA40 3 4
- Mitochondrial Intermembrane Space Import And Assembly 40 Homolog (S. Cerevisiae) 2
- Translocase Of Inner Mitochondrial Membrane 40 Homolog (S. Cerevisiae) 2
- Mitochondrial Intermembrane Space Import And Assembly Protein 40 3
- Translocase Of Inner Mitochondrial Membrane 40 Homolog 3
- TIMM40 3
External Ids for CHCHD4 Gene
Previous GeneCards Identifiers for CHCHD4 Gene
CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]
GeneCards Summary for CHCHD4 Gene
CHCHD4 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include protein disulfide oxidoreductase activity.
UniProtKB/Swiss-Prot for CHCHD4 Gene
Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17 or MICU1 (PubMed:16185709, PubMed:26387864, PubMed:19182799, PubMed:21059946, PubMed:23186364). Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS) (PubMed:16185709, PubMed:19182799, PubMed:21059946). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria (PubMed:16185709, PubMed:19182799, PubMed:21059946). The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS (PubMed:16185709, PubMed:19182799, PubMed:21059946). Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system (PubMed:23186364). Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake (PubMed:26387864).