NDUFA1
Description
The NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1) is a protein-coding gene located on chromosome X.
NDUFA1, also known as NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1, is a protein encoded by the NDUFA1 gene in humans. It is a subunit of NADH dehydrogenase (ubiquinone), the largest of the five complexes in the electron transport chain located within the mitochondrial inner membrane. NDUFA1 gene mutations are linked to mitochondrial Complex I deficiency. The NDUFA1 gene resides on the long q arm of the X chromosome at position 24, spanning 5,176 base pairs. It produces an 8.1 kDa protein consisting of 70 amino acids. NDUFA1 is part of the NADH dehydrogenase (ubiquinone) enzyme complex, which is L-shaped with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm containing all known redox centers and the NADH binding site. NDUFA1 is one of about 31 hydrophobic subunits forming the transmembrane region of Complex I. Its N-terminal hydrophobic domain potentially folds into an alpha helix spanning the inner mitochondrial membrane, while the C-terminal hydrophilic domain interacts with globular subunits of Complex I. The 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. NDUFA1's role in the respiratory chain is to transfer electrons from NADH to ubiquinone. However, it is an accessory subunit, meaning it is not believed to participate in catalysis.
NDUFA1 is also known as CI-MWFE, MC1DN12, MWFE, ZNF183.
