TIMMDC1 gene

From UniProt:

Covered on Genetics Home Reference:

• Mitochondrial complex I deficiency

From NCBI Gene:

• Mitochondrial complex 1 deficiency, nuclear type 31

From UniProt:

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. [MIM:618251]

Cytogenetic Location: 3q13.33, which is the long (q) arm of chromosome 3 at position 13.33

Molecular Location: base pairs 119,498,525 to 119,525,090 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• C3orf1
• MC1DN31