TIMMDC1
Function
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 31
MC1DN31
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Tim17/Tim22/Tim23 family.
Tissue Specificity
Generalized expression enhanced in heart and skeletal muscle.
Cellular localization
- Mitochondrion membrane
- Multi-pass membrane protein
Alternative names
C3orf1, UNQ247/PRO284, TIMMDC1, Protein M5-14, Translocase of inner mitochondrial membrane domain-containing protein 1, TIMM domain containing-protein 1