NDUFA9 gene

NADH:ubiquinone oxidoreductase subunit A9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex 1 deficiency, nuclear type 26

From UniProt:

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. [MIM:618247]

Cytogenetic Location: 12p13.32, which is the short (p) arm of chromosome 12 at position 13.32

Molecular Location: base pairs 4,649,114 to 4,694,317 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 12p13.32, which is the short (p) arm of chromosome 12 at position 13.32
  • CC6
  • CI-39k
  • CI39k
  • COQ11
  • MC1DN26
  • SDR22E1