TMEM126A
Chr 11ARtransmembrane protein 126A
Also known as: OPA7
This mitochondrial membrane protein functions as a chaperone for cotranslational protein quality control and is required for assembly of the ND4 module of mitochondrial complex I. Mutations cause optic atrophy 7, which follows autosomal recessive inheritance and primarily affects the visual system through mitochondrial dysfunction.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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
206 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 20 | 0 | 25 |
Likely Pathogenic | 5 | 0 | 1 | 0 | 6 |
VUS | 6 | 72 | 12 | 1 | 91 |
Likely Benign | 0 | 4 | 31 | 26 | 61 |
Benign | 0 | 1 | 10 | 0 | 11 |
Conflicting | — | 4 | |||
| Total | 16 | 77 | 74 | 27 | 198 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMEM126A · 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 →External Resources
Links to major genomics databases and tools