NDUFS4 gene

NADH:ubiquinone oxidoreductase subunit S4

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

From NCBI Gene:

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

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
  • Mitochondrial complex I deficiency

From UniProt:

Mitochondrial complex I deficiency (MT-C1D): A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. [MIM:252010]

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2

Molecular Location: base pairs 53,560,610 to 53,683,341 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2
  • AQDQ
  • CI-18
  • CI-18 kDa
  • CI-AQDQ