PET100

Chr 19AR

PET100 cytochrome c oxidase chaperone

Also known as: C19orf79, MC4DN12

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneReviewsOMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.821 OMIM phenotype
Clinical SummaryPET100
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Gene-Disease Validity (ClinGen)
Leigh syndrome · ARModerate

Moderate evidence — consider for supplementary testing

2 total gene-disease associations curated

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
12 unique Pathogenic / Likely Pathogenic· 37 VUS of 124 total submissions
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GeneReview available — PET100
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.82LOEUF
pLI 0.000
Z-score -0.06
OE 1.03 (0.531.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.90 (0.691.17)
38 obs / 42.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.03 (0.531.82)
00.351.4
Missense OE?0.90 (0.691.17)
00.61.4
Synonymous OE?0.54
01.21.6
LoF obs/exp: 5 / 4.9Missense obs/exp: 38 / 42.4Syn Z: 1.37
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongPET100-related mitochondrial complex IV deficiencyLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.75top 25%
GOF
0.76top 25%
LOF
0.2483th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

124 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic7
VUS37
Likely Benign54
Benign12
Conflicting5
5
Pathogenic
7
Likely Pathogenic
37
VUS
54
Likely Benign
12
Benign
5
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
2
1
0
5
Likely Pathogenic
5
2
0
0
7
VUS
3
30
4
0
37
Likely Benign
0
6
36
12
54
Benign
0
1
10
1
12
Conflicting
5
Total10415113120

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

6 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap PET100 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

PET100 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →