CHCHD10
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10
Gene Information Card
| Symbol | CHCHD10 |
|---|---|
| Full Name | Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 51640 ncbi.nlm.nih.gov/gene/51640 |
| Ensembl ID | ENSG00000100427 |
| UniProt ID | Q8WYQ3 |
| OMIM ID | 615903 |
| HGNC ID | 15559 |
| Aliases | C22orf16, COX4NB, HSPC038, MGC111024 |
Description
CHCHD10 encodes a small mitochondrial protein localized to the intermembrane space. It is involved in mitochondrial cristae morphology, oxidative phosphorylation, and cellular stress responses. Mutations in CHCHD10 are associated with a spectrum of neurodegenerative and neuromuscular disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and mitochondrial myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Mutations impair mitochondrial function and lead to motor neuron degeneration | ClinVar, OMIM |
| Frontotemporal dementia (FTD) | Disrupted mitochondrial dynamics and increased oxidative stress | ClinVar, OMIM |
| Mitochondrial myopathy with lactic acidosis | Defective oxidative phosphorylation due to altered cristae structure | OMIM |
| Charcot-Marie-Tooth disease type 2 | Axonal degeneration linked to mitochondrial dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Heart | 8.5 | Low |
| Skeletal muscle | 12.1 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 9.4 | Neuroblastoma cell line |
| HeLa | 11.2 | Cervical carcinoma |
| HEK293 | 10.8 | Embryonic kidney |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ser59Leu | Missense | Rare | Impaired mitochondrial respiration and cristae disorganization |
| p.Gly66Val | Missense | Rare | Reduced COX activity and increased ROS |
| p.Arg15Leu | Missense | Rare | Disrupted protein import and mitochondrial fragmentation |
Mutation functional classification
Loss of Function (LOF)
Some mutations reduce CHCHD10 stability and mitochondrial function, but complete loss is not well documented.
Gain of Function (GOF)
Not established; no clear gain-of-function evidence.
Dominant Negative (DN)
Dominant-negative effects proposed for mutations like p.Ser59Leu, interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial intermembrane space | • Protein-containing complex assembly |
| • Oxidative phosphorylation | • Cristae formation |
| • Cellular response to oxidative stress |
Pathways
• Mitochondrial protein import
• Oxidative phosphorylation
• Apoptosis
Protein Summary
CHCHD10 is a 142-amino acid protein with a coiled-coil-helix-coiled-coil-helix domain. It localizes to the mitochondrial intermembrane space and is essential for maintaining cristae structure and respiratory chain supercomplex assembly. The protein interacts with CHCHD2 and other mitochondrial factors to regulate oxidative metabolism and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHCHD10 Knockout HEK293 Cell Line | EDJ-KQ11599 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout A-549 Cell Line | EDJ-KQ39935 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout HCT 116 Cell Line | EDJ-KQ39936 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout HeLa Cell Line | EDJ-KQ39937 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout 3T3-L1 Cell Line | EDC07541 | Mouse | 103172 | Details Get a Quote |
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