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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHCHD4
coiled-coil-helix-coiled-coil-helix domain containing 4
Chromosome 3 · 3p25.1
NCBI Gene: 131474Ensembl: ENSG00000163528.14HGNC: HGNC:26467UniProt: Q8N4Q1
65PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial intermembrane spacemitochondrionmitochondrial respiratory chain complex assemblyprotein-disulfide reductase activityhypertensionAbnormality of the skeletal systemneoplasmlung adenocarcinoma
✦AI Summary

CHCHD4 functions as a central component of the mitochondrial disulfide relay system (DRS) in the intermembrane space, serving as an oxidoreductase that catalyzes disulfide bond formation in imported proteins 1. The protein operates through a redox-sensitive mechanism where oxidized CHCHD4 forms transient intermolecular disulfide bridges with reduced precursor proteins, promoting their oxidation and proper folding in the intermembrane space 1. CHCHD4 is essential for the biogenesis of respiratory chain complexes and imports nuclear-encoded cysteine-containing proteins including COX17, COX19, MICU1, and COA7 2. The protein functions in conjunction with AIF (apoptosis-inducing factor), which when NADH-bound, allosterically activates CHCHD4's chaperone activity by anchoring it to the inner mitochondrial membrane 3. CHCHD4 regulates cellular oxygen consumption and metabolism, with increased expression correlating with HIF-1α stabilization in hypoxic conditions and tumor progression 4. In cancer contexts, CHCHD4 is essential for tumor cell growth and regulates the expression of mitochondrial genes critical for cellular metabolism 5. The protein's dysfunction is implicated in various mitochondrial diseases, highlighting its importance as a potential therapeutic target 6.

Sources cited
1
CHCHD4 is a central component of the mitochondrial disulfide relay system that catalyzes disulfide bond formation through redox-sensitive mechanisms
PMID: 33921425
2
CHCHD4 imports nuclear-encoded cysteine-containing proteins including COX17, COX19, MICU1, and COA7
PMID: 40430290
3
NADH-bound AIF allosterically activates CHCHD4's chaperone activity by anchoring it to the inner mitochondrial membrane
PMID: 39806100
4
CHCHD4 regulates cellular oxygen consumption, HIF-1α stabilization in hypoxia, and correlates with tumor progression
PMID: 22214851
5
CHCHD4 is essential for tumor cell growth and regulates mitochondrial gene expression
PMID: 38909850
6
CHCHD4 dysfunction is implicated in various mitochondrial diseases, highlighting therapeutic potential
PMID: 32105825
Disease Associationsⓘ20
hypertensionOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
neoplasmOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
mouth diseaseOpen Targets
0.06Suggestive
vertebral joint diseaseOpen Targets
0.05Suggestive
obesityOpen Targets
0.05Suggestive
inherited obesityOpen Targets
0.05Suggestive
nail-patella syndromeOpen Targets
0.03Suggestive
acute cystitisOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
renal carcinomaOpen Targets
0.01Suggestive
endometriosisOpen Targets
0.01Suggestive
auditory neuropathyOpen Targets
0.01Suggestive
amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_001098502.2(CHCHD4):c.5C>T (p.Ser2Phe)Pathogenic
8 conditions
☆☆☆☆2024→ Residue 2
View on ClinVar ↗
Related Genes
NAA10Shared pathway100%YAE1Shared pathway100%NAA16Shared pathway100%NAA15Shared pathway100%LMF2Shared pathway100%ZNG1FShared pathway100%
Tissue Expression6 tissues
Heart
100%
Liver
61%
Brain
51%
Ovary
42%
Lung
41%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
CHCHD4NAA10YAE1NAA16NAA15LMF2ZNG1F
PROTEIN STRUCTURE
Preparing viewer…
PDB8VGY · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.62 [0.34–1.23]
RankingsWhere CHCHD4 stands among ~20K protein-coding genes
  • #7,153of 20,598
    Most Researched65
  • #5,020of 5,498
    Most Pathogenic Variants1
  • #12,905of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedCHCHD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
PMID: 33545050
Cell Metab · 2021
1.00
2
CHCHD4 (MIA40) and the mitochondrial disulfide relay system.
PMID: 33599699
Biochem Soc Trans · 2021
0.90
3
CHCHD4 Oxidoreductase Activity: A Comprehensive Analysis of the Molecular, Functional, and Structural Properties of Its Redox-Regulated Substrates.
PMID: 40430290
Molecules · 2025
0.80
4
AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.
PMID: 32105825
Biochim Biophys Acta Mol Basis Dis · 2020
0.70
5
CHCHD4 regulates the expression of mitochondrial genes that are essential for tumour cell growth.
PMID: 38909850
Biochim Biophys Acta Mol Basis Dis · 2024
0.60