MICU1
Chr 10ARmitochondrial calcium uptake 1
Also known as: CALC, CBARA1, EFHA3, MPXPS, ara CALC
The protein regulates mitochondrial calcium uptake by interacting with the mitochondrial calcium uniporter to prevent calcium overload and excessive reactive oxygen species production. Mutations cause myopathy with extrapyramidal signs through autosomal recessive inheritance. Loss of function leads to impaired mitochondrial calcium homeostasis resulting in cellular stress and dysfunction.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
100 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 | 4 | 0 | 4 | 0 | 8 |
Likely Pathogenic | 2 | 0 | 0 | 0 | 2 |
VUS | 0 | 31 | 4 | 0 | 35 |
Likely Benign | 0 | 0 | 19 | 20 | 39 |
Benign | 0 | 0 | 14 | 1 | 15 |
Conflicting | — | 1 | |||
| Total | 6 | 31 | 41 | 21 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MICU1 · 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