NDUFS8 gene

NADH:ubiquinone oxidoreductase core subunit S8

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

From NCBI Gene:

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

From UniProt:

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity). May donate electrons to ubiquinone.

Covered on Genetics Home Reference:

From NCBI Gene:

  • MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2

From UniProt:

Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2): 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. MC1DN2 inheritance is autosomal recessive. [MIM:618222]

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2

Molecular Location: base pairs 68,030,681 to 68,036,644 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2
  • CI-23k
  • CI23KD
  • MC1DN2
  • TYKY