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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
Chromosome 22 Β· 22q11.23
NCBI Gene: 400916Ensembl: ENSG00000250479.10HGNC: HGNC:15559UniProt: B5MBW9
65PubMed Papers
23Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial intermembrane spaceprotein bindingmitochondrion organizationmitochondrionlower motor neuron syndrome with late-adult onsetfrontotemporal dementia with motor neuron diseaseautosomal dominant mitochondrial myopathy with exercise intoleranceamyotrophic lateral sclerosis
✦AI Summary

CHCHD10 encodes a mitochondrial intermembrane space protein that plays critical roles in maintaining mitochondrial structure and function 1. The protein regulates mitochondrial dynamics by interacting with OMA1 to suppress its enzyme activity, thereby controlling OPA1 processing for mitochondrial fusion and restraining mitochondrial integrated stress response (mtISR) initiation 1. CHCHD10 also interacts with Stomatin-Like Protein 2 (SLP2) to maintain stability of the prohibitin complex in the inner mitochondrial membrane, which is essential for proper mitochondrial cristae organization 2. Dominant mutations in CHCHD10 cause a spectrum of neurodegenerative and neuromuscular disorders through gain-of-function mechanisms involving protein misfolding into toxic species 3. Disease-associated variants include p.R15L and p.S59L causing amyotrophic lateral sclerosis and frontotemporal dementia, p.G66V causing Spinal Muscular Atrophy Jokela type, and p.G58R causing isolated mitochondrial myopathy 34. Pathogenic mutations lead to prohibitin complex destabilization, OMA1 cascade activation, mitochondrial fragmentation, and abnormal cristae morphogenesis, ultimately resulting in motor neuron death 2. The severity of motor neuron disease correlates with mutant protein dosage, with altered energy metabolism and creatine metabolism disruption contributing to pathogenesis 4.

Sources cited
1
CHCHD10 regulates mitochondrial dynamics by interacting with OMA1 and suppressing mtISR
PMID: 35173147
2
CHCHD10 interacts with SLP2 and maintains prohibitin complex stability
PMID: 35656794
3
CHCHD10 mutations cause neurodegeneration through gain-of-function protein misfolding mechanisms
PMID: 37021679
4
Disease severity correlates with mutant protein dosage and involves altered creatine metabolism
PMID: 40400037
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
lower motor neuron syndrome with late-adult onsetOpen Targets
0.77Strong
frontotemporal dementia with motor neuron diseaseOpen Targets
0.77Strong
autosomal dominant mitochondrial myopathy with exercise intoleranceOpen Targets
0.69Moderate
amyotrophic lateral sclerosisOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Pick diseaseOpen Targets
0.10Suggestive
frontotemporal dementiaOpen Targets
0.08Suggestive
obesityOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
pseudohypoparathyroidism type 2Open Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1Open Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
Glycogen storage disease due to glycogenin deficiencyOpen Targets
0.05Suggestive
glycogen storage disease XVOpen Targets
0.05Suggestive
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2UniProt
Myopathy, isolated mitochondrial, autosomal dominantUniProt
Spinal muscular atrophy, Jokela typeUniProt
Pathogenic Variants5
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)Pathogenic
not provided|Autosomal dominant mitochondrial myopathy with exercise intolerance;Lower motor neuron syndrome with late-adult onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Autosomal dominant mitochondrial myopathy with exercise intolerance|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
β˜…β˜…β˜†β˜†2024β†’ Residue 15
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Autosomal dominant mitochondrial myopathy with exercise intolerance|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 59
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)Pathogenic
Lower motor neuron syndrome with late-adult onset|Autosomal dominant mitochondrial myopathy with exercise intolerance|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)Pathogenic
Autosomal dominant mitochondrial myopathy with exercise intolerance;Lower motor neuron syndrome with late-adult onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
β˜…β˜†β˜†β˜†2022β†’ Residue 15
NM_213720.3(CHCHD10):c.172G>C (p.Gly58Arg)Pathogenic
Autosomal dominant mitochondrial myopathy with exercise intolerance
β˜†β˜†β˜†β˜†2022β†’ Residue 58
View on ClinVar β†—
Related Genes
IMMTProtein interaction99%CHCHD3Protein interaction99%APOOProtein interaction99%CHCHD6Protein interaction99%MICOS13Protein interaction99%UBQLN2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
81%
Brain
17%
Lung
9%
Ovary
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
CHCHD10IMMTCHCHD3APOOCHCHD6MICOS13UBQLN2
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWW Β· 2.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.54LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.56–1.54]
RankingsWhere CHCHD10 stands among ~20K protein-coding genes
  • #7,152of 20,598
    Most Researched65
  • #3,557of 5,498
    Most Pathogenic Variants5
  • #15,407of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedCHCHD10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.
PMID: 35173147
Cell Death Dis Β· 2022
0.90
3
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.
PMID: 37021679
Biochem Soc Trans Β· 2023
0.80
4
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.
PMID: 29154141
Lancet Neurol Β· 2018
0.70
5
Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications.
PMID: 31526091
Neuroscientist Β· 2020
0.60