CHCHD3
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3
Gene Information Card
| Symbol | CHCHD3 |
|---|---|
| Full Name | Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 54927 ncbi.nlm.nih.gov/gene/54927 |
| Ensembl ID | ENSG00000106524 |
| UniProt ID | Q9NX63 |
| OMIM ID | 613930 |
| HGNC ID | 29117 |
| Aliases | MIC19, MINOS3, PPP1R22 |
Description
CHCHD3 encodes a component of the mitochondrial contact site and cristae organizing system (MICOS), essential for maintaining mitochondrial cristae morphology and inner membrane architecture. The protein localizes to the mitochondrial intermembrane space and interacts with other MICOS subunits to form a complex that stabilizes cristae junctions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Disruption of cristae organization due to CHCHD3 loss-of-function variants leads to impaired oxidative phosphorylation and neurological symptoms. | ClinVar (RCV000169745.1) |
| Cardiomyopathy | CHCHD3 mutations may affect mitochondrial energy production in cardiac muscle, contributing to dilated cardiomyopathy. | OMIM #613930 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 14.2 | High |
| Skeletal Muscle | 12.8 | High |
| Liver | 9.5 | Medium |
| Brain | 8.1 | Medium |
| Kidney | 7.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.1 | High expression |
| HEK293 | 13.4 | High expression |
| HepG2 | 10.2 | Medium expression |
| K562 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Trp) | Missense | <0.01% | Likely pathogenic; disrupts protein stability (ClinVar) |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; associated with mitochondrial disease (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense or start-loss variants that reduce protein abundance or disrupt MICOS complex assembly lead to cristae disorganization and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for CHCHD3.
Dominant Negative (DN)
Heterozygous missense variants may interfere with MICOS complex formation, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial cristae organization (GO:0042407) | • Mitochondrial inner membrane (GO:0005743) |
| • Protein-containing complex binding (GO:0044877) | • Mitochondrial intermembrane space (GO:0005758) |
Pathways
• Mitochondrial cristae formation (Reactome: R-HSA-8949215)
• MICOS complex assembly (Reactome: R-HSA-8949216)
Protein Summary
CHCHD3 (MIC19) is a 26 kDa protein with a coiled-coil-helix-coiled-coil-helix domain that targets it to the mitochondrial intermembrane space. It is a core subunit of the MICOS complex, which is required for the formation and maintenance of cristae junctions. Loss of CHCHD3 leads to fragmented cristae and impaired mitochondrial respiration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHCHD3 Knockout HEK293 Cell Line | EDJ-KQ12905 | Human | 54927 | Details Get a Quote |
| CHCHD3 Knockout HCT 116 Cell Line | EDJ-KQ42093 | Human | 54927 | Details Get a Quote |
| CHCHD3 Knockout HeLa Cell Line | EDJ-KQ42094 | Human | 54927 | Details Get a Quote |
| CHCHD3 Knockout A-549 Cell Line | EDJ-KQ64993 | Human | 54927 | Details Get a Quote |
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