PET100
PET100 cytochrome c oxidase chaperone
Gene Information Card
| Symbol | PET100 |
|---|---|
| Full Name | PET100 cytochrome c oxidase chaperone |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 100131801 ncbi.nlm.nih.gov/gene/100131801 |
| Ensembl ID | ENSG00000204370 |
| UniProt ID | Q6P4D5 |
| OMIM ID | 614770 |
| HGNC ID | 40038 |
| Aliases | PET100 homolog, COX assembly factor |
Description
PET100 encodes a small mitochondrial protein that functions as a chaperone in the assembly of cytochrome c oxidase (complex IV of the mitochondrial respiratory chain). It is required for the early steps of COX assembly, specifically facilitating the incorporation of subunits into the holoenzyme. Mutations in PET100 cause mitochondrial complex IV deficiency, a severe disorder often presenting as Leigh syndrome or fatal infantile lactic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 12 (MC4DN12) | Loss-of-function mutations in PET100 impair COX assembly, reducing complex IV activity and ATP production. | OMIM #619055; ClinVar pathogenic variants |
| Leigh syndrome | PET100 mutations lead to defective oxidative phosphorylation, causing neurodegeneration and lactic acidosis. | Case reports in ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Brain | 5.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Moderate expression |
| HeLa | 6.2 | Low expression |
| HepG2 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Start loss | Rare | Loss of protein; associated with MC4DN12 |
| c.82C>T (p.Arg28*) | Nonsense | Rare | Premature truncation; loss of function |
| c.167_168delAG (p.Glu56Valfs*2) | Frameshift | Rare | Frameshift leading to nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
All reported PET100 mutations are loss-of-function, leading to reduced or absent protein and impaired COX assembly.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial respiratory chain complex IV (GO:0005751) |
| • respiratory chain complex IV assembly (GO:0008535) | • mitochondrial electron transport, cytochrome c to oxygen (GO:0006123) |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
PET100 is a 10.6 kDa mitochondrial protein (98 amino acids) localized to the inner mitochondrial membrane. It acts as a chaperone to facilitate the assembly of cytochrome c oxidase, binding early COX assembly intermediates and promoting subunit incorporation. Defects in PET100 cause severe mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PET100 Knockout HEK293 Cell Line | EDJ-KQ14731 | Human | 100131801 | Details Get a Quote |
| PET100 Knockout A-549 Cell Line | EDJ-KQ43853 | Human | 100131801 | Details Get a Quote |
| PET100 Knockout HCT 116 Cell Line | EDJ-KQ45074 | Human | 100131801 | Details Get a Quote |
| PET100 Knockout HeLa Cell Line | EDJ-KQ45075 | Human | 100131801 | Details Get a Quote |
