TACO1
Chr 17ARtranslational activator of cytochrome c oxidase I
Also known as: CCDC44, MC4DN8
LOFmechanismARLOEUF 1.091 OMIM phenotype
Clinical Summary— TACO1
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Gene-Disease Validity (ClinGen)
Leigh syndrome · ARModerate
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint
1.09LOEUF
pLI 0.001
Z-score 1.37
OE 0.55 (0.30–1.09)
Highly tolerant — LoF variants common in population
Missense Constraint
0.94Z-score
OE missense 0.80 (0.69–0.92)
133 obs / 167.1 exp
Mild missense constraint
Observed / Expected Ratios
LoF OE0.55 (0.30–1.09)
0≤0.351.4
Missense OE0.80 (0.69–0.92)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 6 / 10.9Missense obs/exp: 133 / 167.1Syn Z: -0.57
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TACO1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Open Research Assistant →Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
Sferruzza G et al.·Neurol Genet
2021
Genome-wide identification of CCT genes in wheat (Triticum aestivum L.) and their expression analysis during vernalization
Zhang H et al.·PLoS One
2022
DPC29 promotes post-initiation mitochondrial translation in Saccharomyces cerevisiae
Hubble KA et al.·Nucleic Acids Res
2023
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
TACO1 facilitates the proliferation and migration of gastric cancer cells via Notch1/Hes1 signaling and is associated with immune cell infiltration.
Li N et al.·Exp Cell Res
2025
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y et al.·J Neuromuscul Dis
2020Case report
Distinct Magnetic Resonance Imaging in a Child With a TACO1 Variant.
Herskind MN et al.·JAMA Neurol
2024Case report
Whole exome sequencing identifies the novel putative gene variants related with type 2 diabetes in Mizo population, northeast India.
Lalrohlui F et al.·Gene
2021
Betulinic Acid Affects the Energy-Related Proteomic Profiling in Pancreatic Ductal Adenocarcinoma Cells.
Chiu CF et al.·Molecules
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Structural basis of TACO1-mediated efficient mitochondrial translation.
Wang S et al.·Nat Commun
2026Open Access
Enhanced Oxidative Phosphorylation Driven by TACO1 Mitochondrial Translocation Promotes Stemness and Cisplatin Resistance in Bladder Cancer.
Deng M et al.·Adv Sci (Weinh)
2025Open Access
The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches.
Brischigliaro M et al.·Nucleic Acids Res
2024Open Access
PET117 assembly factor stabilizes translation activator TACO1 thereby upregulates mitochondria-encoded cytochrome C oxidase 1 synthesis.
Sun Q et al.·Free Radic Biol Med
2023
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools