功能Putative methyltransferase involved in mitochondrial complex I assembly at early stages.
疾病相关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.
序列相似性Belongs to the methyltransferase superfamily.
细胞定位Mitochondrion inner membrane. Peripherally localized on the matrix face of the mitochondrial inner membrane.