| Gene Symbol |
CHCHD4
|
| Entrez Gene |
131474
|
| Alt Symbol |
MIA40, TIMM40
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
coiled-coil-helix-coiled-coil-helix domain containing 4
|
| Other Description |
coiled-coil-helix-coiled-coil-helix domain-containing protein 4|mitochondrial intermembrane space import and assembly 40 homolog|mitochondrial intermembrane space import and assembly protein 40|translocase of inner mitochondrial membrane 40 homolog
|
| Swissprots |
Q96MY6 Q96AI2 Q8N4Q1 A8K3Z9
|
| Accessions |
EAW64180 EAW64181 EAW64182 EAW64183 Q8N4Q1 AK056271 BAB71132 AK290764 BAF83453 BC017082 AAH17082 BC033775 AAH33775 DB452249 DB501565 NM_001098502 NP_001091972 NM_144636 NP_653237
|
| Function |
Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. 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. Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system. {ECO:0000269|PubMed:16185709, ECO:0000269|PubMed:19182799, ECO:0000269|PubMed:21059946, ECO:0000269|PubMed:23186364}.
|
| Subcellular Location |
Mitochondrion intermembrane space {ECO:0000269|PubMed:16185709, ECO:0000269|PubMed:23186364}.
|
| Tissue Specificity |
Expressed in all tissues tested, suggesting an ubiquitous expression. {ECO:0000269|PubMed:16185709}.
|