CI-24k, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial, NADH-ubiquinone oxidoreductase 24 kDa subunit, NDUFV2.
CI-24k, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial, NADH-ubiquinone oxidoreductase 24 kDa subunit, NDUFV2.
NDUFV2 is located on the p arm of chromosome 18 at position 11.22 and consists of 9 exons . The gene produces a 27.4 kDa protein composed of 249 amino acids . This protein is a member of the complex I 24 kDa subunit family and contains a cofactor binding site for a 2Fe-2S cluster and a transit peptide domain . The protein structure includes 2 turns, 3 beta strands, and 7 alpha helices .
The primary function of the NADH-ubiquinone oxidoreductase complex (complex I) is to catalyze the transfer of electrons from NADH to ubiquinone. This process is essential for the mitochondrial respiratory chain and energy production in cells .
Mutations in the NDUFV2 gene have been implicated in several neurodegenerative and psychiatric disorders, including Parkinson’s disease, Alzheimer’s disease, bipolar disorder, and schizophrenia . Additionally, defects in this subunit have been associated with early-onset hypertrophic cardiomyopathy and encephalopathy .
Research has shown that the mitochondrial targeting sequence of NDUFV2 is located at the N-terminus of the precursor protein. Maintaining a net positive charge and an amphiphilic structure with a balance of basic and hydrophobic amino acids in the N-terminus is crucial for mitochondrial targeting . Studies have also explored the pathogenetic mechanisms of human deletion mutations in NDUFV2, which can lead to significant reductions in mitochondrial targeting ability and contribute to disease development .