MCUR1

Chr 6

mitochondrial calcium uniporter regulator 1

Also known as: C6orf79, CCDC90A, FMP32

NCBI Gene: 63933ENSG00000050393UniProt: Q96AQ8

Predicted to enable protein-macromolecule adaptor activity. Involved in calcium import into the mitochondrion; calcium ion import; and positive regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 0.93
OE 0.74 (0.47–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.24Z-score
OE missense 1.06 (0.92–1.21)
150 obs / 142.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.47–1.23)
0≤0.351.4
Missense OE?1.06 (0.92–1.21)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 11 / 14.9Missense obs/exp: 150 / 142.1Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MCUR1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients