NDUFA1 gene
NADH:ubiquinone oxidoreductase subunit A1
The information on this page was automatically extracted from online scientific databases.
From NCBI 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]
From UniProt:
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.
Related Information
Covered on Genetics Home Reference:
From NCBI Gene:
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
From UniProt:
Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12): A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [MIM:301020]
Related Information
Cytogenetic Location: Xq24, which is the long (q) arm of the X chromosome at position 24
Molecular Location: base pairs 119,871,832 to 119,876,662 on the X chromosome (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Related Information
- CI-MWFE
- MC1DN12
- MWFE
- ZNF183