NDUFV3

Description

The NDUFV3 (NADH:ubiquinone oxidoreductase subunit V3) is a protein-coding gene located on chromosome 21.

NDUFV3 is a gene that encodes a protein involved in the mitochondrial respiratory chain. The protein is one of the many subunits that make up the NADH-ubiquinone oxidoreductase complex (Complex I), which is responsible for catalyzing the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. NDUFV3 is part of the flavoprotein fraction of Complex I, but its specific function is unknown. There are two transcript variants encoding different isoforms of the protein.

NDUFV3, also known as Complex I-9kD, is an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). It is believed not to be involved in catalysis. Complex I facilitates the transfer of electrons from NADH to the respiratory chain, with ubiquinone being the immediate electron acceptor. NDUFV3 may be the terminally assembled subunit of Complex I.

NDUFV3 is also known as CI-10k, CI-9KD.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing