TIMMDC1

Chr 3q13.33

translocase of inner mitochondrial membrane domain containing 1

Aliases:: FLJ22597
MANE:: ENST00000494664.6

OMIM: 615534 ↗NCBI: 51300 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TIMMDC1 · Q9NPL8

v62025-08-01

Predicted Aligned Error matrix for TIMMDC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.4/ 100

Confident

285 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)47%
Low(50–70)26%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial complex I deficiency, nuclear type 31
0.66
mitochondrial complex I deficiency
0.62
neurodegenerative disease
0.55
primary biliary cholangitis
0.41
hypothyroidism
0.39
inborn mitochondrial metabolism disorder
0.37
mitochondrial disease
0.37
mitochondrial complex I deficiency, nuclear type 1
0.32
multiple sclerosis
0.30
systemic lupus erythematosus
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complex I assembly factor TIMMDC1, mitochondrial

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I