NDUFA9

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). 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.

Mitochondrial complex I deficiency, nuclear type 26

MC1DN26

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. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance.

None

The disease is caused by variants affecting the gene represented in this entry.

Acetylated on lysine residues. BLOC1S1 is required for acetylation (PubMed:22309213). Acetylated by CLOCK in a circadian manner (PubMed:28985504).

Belongs to the complex I NDUFA9 subunit family.

• Mitochondrion matrix

NDUFS2L, NDUFA9, Complex I-39kD, NADH-ubiquinone oxidoreductase 39 kDa subunit, CI-39kD

• entrezGene:4704
• omim:603834
• swissprot:Q16795

Proteins

Neuroscience

42510Da