Putative methyltransferase involved in mitochondrial complex I assembly at early stages.
Involvement in disease
Defects in C20orf7 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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.
Belongs to the methyltransferase superfamily.
Mitochondrion inner membrane. Peripherally localized on the matrix face of the mitochondrial inner membrane.