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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PET100
PET100 cytochrome c oxidase chaperone
Chromosome 19 Β· 19p13.2
NCBI Gene: 100131801Ensembl: ENSG00000229833.12HGNC: HGNC:40038UniProt: P0DJ07
11PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionunfolded protein bindingmitochondrial respiratory chain complex IV assemblymitochondrial inner membraneleigh syndrome due to mitochondrial complex iv deficiencymitochondrial complex IV deficiency, nuclear type 12Isolated cytochrome C oxidase deficiencyLeigh syndrome
✦AI Summary

PET100 is a mitochondrial chaperone protein essential for cytochrome c oxidase (complex IV) assembly and maturation. The protein localizes to the mitochondrial inner membrane where it functions as part of a module-based assembly process for complex IV biogenesis 1. PET100 works in conjunction with other highly conserved chaperones including PET117 and the newly identified MR-1S to facilitate proper complex IV assembly in higher eukaryotes 1. The protein forms a ~300 kDa subcomplex with complex IV subunits during the assembly process 2. Mutations in PET100 cause isolated mitochondrial complex IV deficiency, resulting in severe clinical phenotypes including Leigh syndrome and fatal infantile lactic acidosis 23. A founder mutation (c.3G>C) abolishing the initiation codon has been identified in Lebanese populations, causing complex IV deficiency with seizures as a prominent feature 2. Truncating variants such as p.(Gln48*) result in complete loss of enzyme activity and holocomplex assembly 3. The gene has also been associated with cancer prognosis, with PET100 expression levels correlating with mitochondrial activity in mast cells and serving as a prognostic biomarker in ovarian cancer 4.

Sources cited
1
PET100 works with PET117 and MR-1S chaperones in module-based complex IV assembly
PMID: 28199844
2
PET100 forms ~300 kDa subcomplex with complex IV subunits and founder mutation causes Leigh syndrome
PMID: 24462369
3
Truncating PET100 variants cause fatal infantile lactic acidosis and complete complex IV deficiency
PMID: 25293719
4
PET100 expression correlates with mitochondrial activity and serves as prognostic biomarker in ovarian cancer
PMID: 38944891
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.73Strong
mitochondrial complex IV deficiency, nuclear type 12Open Targets
0.71Strong
Isolated cytochrome C oxidase deficiencyOpen Targets
0.69Moderate
Leigh syndromeOpen Targets
0.55Moderate
Intellectual disabilityOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Abnormality of the mitochondrionOpen Targets
0.33Weak
Congenital lactic acidosisOpen Targets
0.33Weak
genetic disorderOpen Targets
0.18Weak
neuropathic painOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
mitochondrial complex IV deficiency, nuclear-typeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
mitochondrial respiratory chain complex deficiencyOpen Targets
0.00Suggestive
NARP syndromeOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
Mitochondrial complex IV deficiency, nuclear type 12UniProt
Pathogenic Variants11
NM_001171155.2(PET100):c.3G>C (p.Met1Ile)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1|not provided|Mitochondrial complex IV deficiency, nuclear type 12|PET100-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_001171155.2(PET100):c.1A>G (p.Met1Val)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 12|not provided|Mitochondrial complex IV deficiency, nuclear type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001171155.2(PET100):c.114+1G>ALikely pathogenic
not provided|Mitochondrial complex IV deficiency, nuclear type 12
β˜…β˜…β˜†β˜†2024
NM_001171155.2(PET100):c.28-2A>GLikely pathogenic
not provided|Mitochondrial complex IV deficiency, nuclear type 12
β˜…β˜…β˜†β˜†2024
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)Pathogenic
Congenital lactic acidosis;Mitochondrial complex IV deficiency, nuclear type 1|Mitochondrial complex IV deficiency, nuclear type 12|Mitochondrial complex IV deficiency, nuclear type 1
β˜…β˜…β˜†β˜†2023β†’ Residue 48
NM_001171155.2(PET100):c.3G>A (p.Met1Ile)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 12
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_001171155.2(PET100):c.115-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001171155.2(PET100):c.39C>A (p.Tyr13Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 13
NM_001171155.2(PET100):c.23_27+4delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001171155.2(PET100):c.66G>A (p.Trp22Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 22
NM_001171155.2(PET100):c.1A>T (p.Met1Leu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 1
View on ClinVar β†—
Related Genes
COX16Shared pathway100%COA4Shared pathway100%TMEM223Shared pathway100%COX20Shared pathway100%SMIM20Shared pathway100%COA5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
69%
Liver
54%
Lung
42%
Ovary
31%
Heart
21%
Gene Interaction Network
Click a node to explore
PET100COX16COA4TMEM223COX20SMIM20COA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0DJ07
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.68–1.60]
RankingsWhere PET100 stands among ~20K protein-coding genes
  • #16,856of 20,598
    Most Researched11
  • #2,812of 5,498
    Most Pathogenic Variants11
  • #15,653of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedPET100
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.
PMID: 28199844
Cell Rep Β· 2017
1.00
2
Effect of amino acid substitution in New Delhi metallo-Ξ²-lactamase on carbapenem susceptibility.
PMID: 29651859
Acta Microbiol Immunol Hung Β· 2018
0.90
3
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
PMID: 25293719
Eur J Hum Genet Β· 2015
0.80
4
Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH.
PMID: 37097752
JCI Insight Β· 2023
0.70
5
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
PMID: 24462369
Am J Hum Genet Β· 2014
0.60