Complex 1 (also known as NADH dehydrogenase) of the electron transport chain (respiratory chain) is an enzymatic complex that catalyzes the transfer of electrons from NADH to ubiquinone. Free energy from the reaction is conserved in the transfer of protons into the intermembrane space to create an electrochemical proton gradient, a driving force for ATP synthesis. Complex 1 is a complicated, multi-protein, L-shaped complex composed of at least 45 different subunits and located in the mitochondrial inner membrane. NDUFS4 (NADH dehydrogenase (ubiquinone) Fe-S protein 4), also known as AQDQ or CI-18 (Complex I-18kDa protein), belongs to the Complex I NDUFS4 subunit family. NDUFS4 localizes to the matrix side of the inner membrane of the mitochondrion and functions as an accessory subunit of Complex I. Mutations in the gene encoding NDUFS4 can result in Complex I mitochondrial respiratory chain deficiency. Patients with this deficiency may exhibit cardiomyopathy, myopathy, liver failure and neurological disorders.
