NADH Dehydrogenase Ubiquinone Flavoprotein 2 (NDUFV2)

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane.

NDUFV2 encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. NDUFV2 gene spans 31.5 kb. The 5-prime flanking region lacks typical CAAT and TATA boxes but contains 3 putative GC boxes.