Gene Symbol | NDUFA1 |
Entrez Gene ID | 4694 |
Full Name | NADH:ubiquinone oxidoreductase subunit A1 |
Synonyms | CI-MWFE,MWFE,ZNF183 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the 'hydrophobic protein' (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |