NDUFA5
Description
The NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5) is a protein-coding gene located on chromosome 7.
The NDUFA5 gene encodes for NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5, an enzyme located in the mitochondrial inner membrane. This protein is a subunit of NADH dehydrogenase (ubiquinone), the largest complex in the electron transport chain. The gene is located on chromosome 7 and spans 64,655 base pairs. It produces a 13.5 kDa protein with 116 amino acids. NDUFA5 is one of about 31 hydrophobic subunits that form the transmembrane region of Complex I, with a long hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm. The highly conserved two-domain structure suggests its importance for protein function, with the hydrophobic domain anchoring the NADH dehydrogenase (ubiquinone) complex to the inner mitochondrial membrane. NDUFA5 localizes to the inner mitochondrial membrane as part of the water-soluble iron-sulfur protein (IP) fraction of complex I. It is assumed to undergo post-translational modifications including removal of the initiator methionine and N-acetylation of the next amino acid. The protein's secondary structure is primarily alpha helix, with the carboxy-terminal half having a high potential to adopt a coiled-coil form.
NDUFA5 is also known as B13, CI-13KD-B, CI-13kB, NUFM, UQOR13.
Associated Diseases
- type 2 diabetes mellitus
- type 1 diabetes mellitus
- schizophrenia
- breast cancer
- bipolar disorder
- multiple sclerosis
- Parkinson disease
