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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHCHD6
coiled-coil-helix-coiled-coil-helix domain containing 6
Chromosome 3 · 3q21.3
NCBI Gene: 84303Ensembl: ENSG00000159685.12HGNC: HGNC:28184UniProt: Q9BRQ6
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA damage responseSAM complexMICOS complexsystemic lupus erythematosusconnective tissue neoplasmHypercholesterolemianeurodegenerative disease
✦AI Summary

CHCHD6 is a core component of the mitochondrial contact site and cristae organizing system (MICOS) complex, a large protein assembly of the inner mitochondrial membrane essential for maintaining cristae structure and mitochondrial architecture 12. CHCHD6 physically interacts with other MICOS components including mitofilin, CHCHD3, and Sam50 to sustain cristae morphology and organization 12. Loss of CHCHD6 results in reduced cristae density, impaired mitochondrial morphology, and decreased ATP production and oxygen consumption 2. CHCHD6 dysfunction contributes to age-related mitochondrial deterioration in skeletal and cardiac muscle, with reduced MICOS complex expression correlating with sarcopenia and cardiac aging phenotypes 34. In Alzheimer's disease, CHCHD6 plays a critical mechanistic role connecting amyloid-beta pathology to mitochondrial dysfunction through a feedback loop where APP intracellular domain fragments suppress CHCHD6 transcription, reducing CHCHD6 levels and promoting APP accumulation and neuronal damage 5. Additionally, CHCHD6 variants are associated with mitochondrial dysfunction in non-alcoholic fatty liver disease and glaucoma medication non-adherence, highlighting its broader metabolic significance 67. These findings position CHCHD6 as a therapeutic target for age-related diseases and neurodegenerative conditions.

Sources cited
1
CHCHD6 physically interacts with mitofilin and Sam50 to maintain cristae structure as part of the MICOS complex
PMID: 26530328
2
CHCHD6 knockdown causes defects in cristae morphology, reduces ATP production and oxygen consumption, and interacts with mitofilin
PMID: 22228767
3
Age-related loss of MICOS complex genes including CHCHD6 alters mitochondrial morphology in aged muscle tissues
PMID: 37960952
4
CHCHD6 knockout in cardiac fibroblasts shows decreased oxidative consumption and altered mitochondrial structure similar to age-related changes
PMID: 37624101
5
CHCHD6 connects APP processing and mitochondrial dysfunction in Alzheimer's disease through a regulatory feedback mechanism
PMID: 36104602
6
CHCHD6 downregulation impairs mitochondrial respiration and is linked to non-alcoholic fatty liver disease pathogenesis
PMID: 29361464
7
CHCHD6 missense mutations are associated with glaucoma medication non-adherence and increased disease risk
PMID: 36982708
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.31Weak
connective tissue neoplasmOpen Targets
0.28Weak
HypercholesterolemiaOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
benign chondrogenic neoplasmOpen Targets
0.23Weak
skin agingOpen Targets
0.16Weak
retinopathyOpen Targets
0.14Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
preeclampsiaOpen Targets
0.04Suggestive
Cognitive impairmentOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
glaucomaOpen Targets
0.01Suggestive
HyperglycemiaOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hyperthyroidismOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
heart failureOpen Targets
0.00Suggestive
steatosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOMM5Protein interaction100%CHCHD10Protein interaction99%MTX3Protein interaction92%HSPA9Protein interaction92%CHCHD2Protein interaction89%MTX1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
88%
Heart
78%
Bone Marrow
47%
Lung
46%
Liver
44%
Gene Interaction Network
Click a node to explore
CHCHD6TOMM5CHCHD10MTX3HSPA9CHCHD2MTX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BRQ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.55–1.21]
RankingsWhere CHCHD6 stands among ~20K protein-coding genes
  • #8,786of 20,598
    Most Researched50
  • #12,733of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedCHCHD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
3D reconstruction of murine mitochondria reveals changes in structure during aging linked to the MICOS complex.
PMID: 37960952
Aging Cell · 2023
1.00
2
Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence.
PMID: 36982708
Int J Mol Sci · 2023
0.90
3
A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease.
PMID: 36104602
Acta Neuropathol · 2022
0.80
4
Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.
PMID: 26530328
Sci Rep · 2015
0.70
5
CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
PMID: 22228767
J Biol Chem · 2012
0.60