CMC1: Cytochrome C Oxidase Assembly Factor 1
Essential for mitochondrial complex IV assembly and function
Gene Information Card
| Symbol | CMC1 |
|---|---|
| Full Name | Cytochrome C Oxidase Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p21.2 |
| NCBI Gene ID | 152100 ncbi.nlm.nih.gov/gene/152100 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q7Z7K0 |
| OMIM ID | 614592 |
| HGNC ID | 28773 |
| Aliases | COX assembly factor CMC1, C1orf31, COX20 |
Description
CMC1 (Cytochrome C Oxidase Assembly Factor 1) is a protein-coding gene located on chromosome 9p21.2. It encodes a mitochondrial inner membrane protein that functions as a chaperone in the assembly of cytochrome c oxidase (complex IV) of the mitochondrial respiratory chain. CMC1 is essential for the maturation and stability of the COX2 subunit, facilitating its insertion into the complex. Mutations in CMC1 are associated with mitochondrial complex IV deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair COX2 assembly, reducing complex IV activity | ClinVar, OMIM |
| Leigh syndrome | CMC1 mutations disrupt mitochondrial energy production, leading to neurodegeneration | OMIM #614592 |
| Cardioencephalomyopathy | Defective COX assembly affects heart and brain tissues | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.7 | Low |
| Brain | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | Embryonic kidney cells |
| HeLa | 8.4 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop, loss of function |
| c.1A>G (p.Met1?) | Missense | Rare | Start codon loss, no protein |
| c.155G>A (p.Arg52Gln) | Missense | Rare | Impaired COX2 interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent CMC1 protein, reducing COX assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Cytochrome-c oxidase activity |
| • Mitochondrial respiratory chain complex IV assembly | • Protein chaperone |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
CMC1 is a 12.5 kDa mitochondrial inner membrane protein with a single transmembrane domain. It acts as a chaperone for the COX2 subunit of cytochrome c oxidase, protecting it from degradation and facilitating its incorporation into the holoenzyme. CMC1 interacts with COX20 and other assembly factors. Deficiency leads to complex IV instability and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMC1 Knockout HEK293 Cell Line | EDJ-KQ11376 | Human | 152100 | Details Get a Quote |
| CMC1 Knockout A-549 Cell Line | EDJ-KQ39568 | Human | 152100 | Details Get a Quote |
| CMC1 Knockout HCT 116 Cell Line | EDJ-KQ39569 | Human | 152100 | Details Get a Quote |
| CMC1 Knockout HeLa Cell Line | EDJ-KQ39570 | Human | 152100 | Details Get a Quote |
