PET117: Cytochrome c Oxidase Assembly Factor
Essential for mitochondrial complex IV biogenesis and function
Gene Information Card
| Symbol | PET117 |
|---|---|
| Full Name | PET117 cytochrome c oxidase assembly factor |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 100131801 ncbi.nlm.nih.gov/gene/100131801 |
| Ensembl ID | ENSG00000204070 |
| UniProt ID | Q6P1X6 |
| OMIM ID | 614771 |
| HGNC ID | 33750 |
| Aliases | PET117, COX assembly factor PET117 homolog |
Description
PET117 encodes a mitochondrial protein that functions as an assembly factor for cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain (complex IV). It is required for the proper assembly and stability of the COX holoenzyme. Mutations in PET117 are associated with mitochondrial complex IV deficiency, leading to early-onset encephalopathy, hypotonia, and lactic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 20 | Loss-of-function mutations impair COX assembly, reducing ATP production and causing oxidative stress | PMID: 25348405, ClinVar |
| Leigh syndrome | PET117 mutations disrupt mitochondrial energy metabolism, leading to neurodegeneration | PMID: 25348405 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 12.3 | Moderate expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein synthesis |
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, no protein synthesis |
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
PET117 loss-of-function mutations impair COX assembly, leading to complex IV deficiency and mitochondrial dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PET117.
Dominant Negative (DN)
No evidence of dominant-negative effects; PET117 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial intermembrane space (GO:0005758) |
| • mitochondrial matrix (GO:0005759) | • mitochondrial electron transport (GO:0006123) |
| • membrane (GO:0016020) | • enzyme regulator activity (GO:0030234) |
| • respiratory chain complex IV (GO:0045277) | • cytochrome-c oxidase activity (GO:0061783) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
PET117 is a small mitochondrial protein (approximately 7.5 kDa) localized to the mitochondrial intermembrane space and matrix. It acts as a chaperone-like assembly factor for cytochrome c oxidase, facilitating the incorporation of copper and heme a into the COX holoenzyme. PET117 interacts with other assembly factors such as COX10, COX15, and SURF1. Defects in PET117 cause mitochondrial complex IV deficiency, a severe multisystem disorder.
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