CHCHD6
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6
Gene Information Card
| Symbol | CHCHD6 |
|---|---|
| Full Name | Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 84303 ncbi.nlm.nih.gov/gene/84303 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q9BRQ6 |
| OMIM ID | 615704 |
| HGNC ID | 28159 |
| Aliases | CHCM1, MICOS10, MINOS1, C3orf47 |
Description
CHCHD6 encodes a mitochondrial protein that is a component of the MICOS (mitochondrial contact site and cristae organizing system) complex, essential for maintaining mitochondrial cristae morphology and inner membrane architecture. The protein localizes to the mitochondrial inner membrane and is involved in mitochondrial function and cellular respiration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease | Disruption of MICOS complex leads to abnormal cristae structure and impaired oxidative phosphorylation | PMID: 25609768 |
| Neurodegenerative disorders | Altered mitochondrial dynamics and cristae organization may contribute to neuronal dysfunction | PMID: 28424219 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.3 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
| SH-SY5Y | 7.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CHCHD6 are expected to disrupt MICOS complex assembly, leading to abnormal cristae morphology and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CHCHD6.
Dominant Negative (DN)
Dominant-negative effects have not been described for CHCHD6 mutations.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial cristae organization | • mitochondrial inner membrane |
| • protein-containing complex assembly | • mitochondrial respiratory chain complex assembly |
Pathways
• MICOS complex assembly
• Mitochondrial cristae formation
Protein Summary
CHCHD6 is a 16.5 kDa mitochondrial inner membrane protein containing a coiled-coil-helix-coiled-coil-helix (CHCH) domain. It is a core component of the MICOS complex, which is critical for maintaining mitochondrial cristae junctions and inner membrane architecture. The protein interacts with other MICOS subunits such as CHCHD3, CHCHD4, and MICOS10 to form a stable complex that regulates mitochondrial morphology and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHCHD6 Knockout HEK293 Cell Line | EDJ-KQ1903 | Human | 84303 | Details Get a Quote |
| CHCHD6 Knockout A-549 Cell Line | EDJ-KQ23172 | Human | 84303 | Details Get a Quote |
| CHCHD6 Knockout HCT 116 Cell Line | EDJ-KQ23173 | Human | 84303 | Details Get a Quote |
| CHCHD6 Knockout HeLa Cell Line | EDJ-KQ23174 | Human | 84303 | Details Get a Quote |
| CHCHD6 Knockout HAP1 Cell Line | EDC08319 | Human | 84303 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
