Identity
HGNC
LOCATION
3p25.1
LOCUSID
ALIAS
MIA40,TIMM40
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 131474
MIM: 611077
HGNC: 26467
Ensembl: ENSG00000163528
Variants:
dbSNP: 131474
ClinVar: 131474
TCGA: ENSG00000163528
COSMIC: CHCHD4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163528 | ENST00000295767 | Q8N4Q1 |
| ENSG00000163528 | ENST00000295767 | A0A024R2F8 |
| ENSG00000163528 | ENST00000396914 | Q8N4Q1 |
| ENSG00000163528 | ENST00000396914 | A0A024R2I5 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38411431 | 2024 | [The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis]. | 0 |
| 38411431 | 2024 | [The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis]. | 0 |
| 37365177 | 2023 | Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant. | 1 |
| 37365177 | 2023 | Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant. | 1 |
| 33599699 | 2021 | CHCHD4 (MIA40) and the mitochondrial disulfide relay system. | 10 |
| 33599699 | 2021 | CHCHD4 (MIA40) and the mitochondrial disulfide relay system. | 10 |
| 32105825 | 2020 | AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway. | 28 |
| 32105825 | 2020 | AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway. | 28 |
| 26589182 | 2016 | Direct structural evidence of protein redox regulation obtained by in-cell NMR. | 18 |
| 26589182 | 2016 | Direct structural evidence of protein redox regulation obtained by in-cell NMR. | 18 |
| 26004228 | 2015 | Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. | 95 |
| 26014136 | 2015 | Mia40 is a facile oxidant of unfolded reduced proteins but shows minimal isomerase activity. | 6 |
| 26158520 | 2015 | Loss of apoptosis-inducing factor critically affects MIA40 function. | 47 |
| 26178476 | 2015 | Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4. | 5 |
| 26275620 | 2015 | Human mitochondrial MIA40 (CHCHD4) is a component of the Fe-S cluster export machinery. | 8 |
Citation
Dessen P
CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-01-01
Online version: http://atlasgeneticsoncology.org/gene/53675/chchd4-(coiled-coil-helix-coiled-coil-helix-domain-containing-4)
