NDUFA2

The NDUFA2 gene encodes one of the accessory subunits of complex I, the first and largest complex of the mitochondrial respiratory chain (Hoefs et al., 2008 [PubMed 18513682]). For a discussion of complex I, see MIM 516000.[supplied by OMIM

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa

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.

Aerobic respiration Source: ComplexPortal
Blastocyst hatching Source: Ensembl
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB

Mitochondrion inner membrane

Mitochondrial complex I deficiency, nuclear type 13 (MC1DN13):
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. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance.