NDUFA7
Description
The NDUFA7 (NADH:ubiquinone oxidoreductase subunit A7) is a protein-coding gene located on chromosome 19.
The NDUFA7 gene encodes NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7, an enzyme located in the mitochondrial inner membrane and part of the largest complex in the electron transport chain. This 12.5 kDa protein, composed of 113 amino acids, is a subunit of NADH dehydrogenase (ubiquinone), also known as Complex I. The gene is situated on the p arm of chromosome 19 and spans 12,618 base pairs. Its structure features a hydrophobic transmembrane domain and a hydrophilic domain, with a highly conserved two-domain structure suggesting a critical role in protein function. NDUFA7 is one of 31 hydrophobic subunits that form the transmembrane region of Complex I, with its secondary structure primarily alpha helix and a coiled-coil form in the carboxy-terminal half. The amino-terminal part contains a potential beta sheet rich in hydrophobic amino acids that may act as a mitochondrial import signal. Related pseudogenes have been identified on four other chromosomes.
NDUFA7 is also known as B14.5a, CI-B14.5a.
Associated Diseases
- type 2 diabetes mellitus
- type 1 diabetes mellitus
- schizophrenia
- breast cancer
- bipolar disorder
- urinary bladder carcinoma
- prostate cancer
