Aliases for NDUFA1 Gene
External Ids for NDUFA1 Gene
Previous GeneCards Identifiers for NDUFA1 Gene
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]
GeneCards Summary for NDUFA1 Gene
NDUFA1 (NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa) is a Protein Coding gene. Diseases associated with NDUFA1 include mitochondrial complex i deficiency and leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot for NDUFA1 Gene
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone