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. 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:

  • Leigh syndrome

From UniProt:

Leigh syndrome (LS): An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [MIM:256000]

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

Molecular Location: base pairs 4,649,098 to 4,687,554 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.32, which is the short (p) arm of chromosome 12 at position 13.32
  • CC6
  • CI-39k
  • CI39k
  • NDUFS2L
  • SDR22E1