COA7

Chr 1AR

cytochrome c oxidase assembly factor 7

NCBI Gene: 65260ENSG00000162377UniProt: Q96BR5

Required for assembly of mitochondrial respiratory chain complex I and complex IV

Primary Disease Associations & Inheritance

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3MIM #618387
AR
92
ClinVar variants
0
Pathogenic / LP
0.06
pLI score
0
Active trials
Clinical Summary— COA7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.06) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
92 total variants — no pathogenic classifications of 92 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.02LOEUF
pLI 0.060
Z-score 1.55
OE 0.39 (0.18–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.67Z-score
OE missense 0.83 (0.71–0.98)
106 obs / 127.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.39 (0.18–1.02)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.71–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 3 / 7.6Missense obs/exp: 106 / 127.4Syn Z: 0.03

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

COA7 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

MIM #618387

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.·J Neuromuscul Dis
2022Cohort
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.·J Hum Genet
2023Review
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.
Mohanraj K et al.·EMBO Mol Med
2019
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y et al.·J Neurol
2024
A Mitochondria-Related Signature in Diffuse Large B-Cell Lymphoma: Prognosis, Immune and Therapeutic Features.
Zhou ZZ et al.·Cancer Med
2025
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Tang Y et al.·Clin Neuropathol
2022Case report
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.
Martinez Lyons A et al.·J Med Genet
2016Case report
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
Formosa LE et al.·Proc Natl Acad Sci U S A
2022
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y et al.·Brain
2018
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
Ouchi S et al.·BMC Neurol
2023Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools