NDUFAF7
Description
The NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7) is a protein-coding gene located on chromosome 2.
NDUFAF7, also known as NADH:ubiquinone oxidoreductase complex assembly factor 7 (NDUFAF7), MidA, C2orf56, or PRO1853, is a protein encoded by the NDUFAF7 gene. It is a methyltransferase mitochondrial assembly enzyme involved in the assembly and stabilization of NADH dehydrogenase (ubiquinone), also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in NDUFAF7 have been associated with pathologic myopia and complex I deficiency. NDUFAF7 is located on the p arm of chromosome 2 in position 22.2 and has 14 exons. The NDUFAF7 gene produces a 49.2 kDa protein composed of 441 amino acids. NDUFAF7 is believed to be a part of the S-adenosylmethionine-dependent methyltransferase family. This family has a characteristic seven-β-strand protein fold. NDUFAF7 is a type II arginine methyltransferase, meaning that its enzymatic activity produces a symmetrical ω-NG,NG′-dimethylarginine. It has a methyltransferase domain and an N-terminal sequence that corresponds to the recognized mitochondrial-targeting peptide. NDUFAF7's stoichometry is disputed with some findings indicating that it is a homodimer, while others denote it to be monomeric.
NDUFAF7 is an arginine methyltransferase that plays a role in the assembly and stabilization of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). It acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into complex I, stabilizing the early intermediate complex.
NDUFAF7 is also known as C2orf56, MidA, PRO1853.
