NDUFA12 gene
NADH:ubiquinone oxidoreductase subunit A12
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
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 23
From UniProt:
Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23): 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. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618244]
Related Information
Cytogenetic Location: 12q22, which is the long (q) arm of chromosome 12 at position 22
Molecular Location: base pairs 94,971,328 to 95,003,713 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Related Information
- B17.2
- DAP13
- MC1DN23