TIMMDC1

Chr 3

translocase of inner mitochondrial membrane domain containing 1

Also known as: C3orf1, MC1DN31

NCBI Gene: 51300ENSG00000113845UniProt: Q9NPL8

Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 31

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
Multiple*
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?
1.27LOEUF
pLI 0.000
Z-score 0.73
OE 0.81 (0.54–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.00Z-score
OE missense 1.00 (0.88–1.14)
156 obs / 156.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.54–1.27)
0≤0.351.4
Missense OE?1.00 (0.88–1.14)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 14 / 17.3Missense obs/exp: 156 / 156.2Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TIMMDC1 · 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