NDUFS3 gene

NADH:ubiquinone oxidoreductase core subunit S3

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

From NCBI Gene:

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

From UniProt:

Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8): 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618230]

Cytogenetic Location: 11p11.2, which is the short (p) arm of chromosome 11 at position 11.2

Molecular Location: base pairs 47,579,010 to 47,584,563 on chromosome 11 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 11p11.2, which is the short (p) arm of chromosome 11 at position 11.2
  • CI-30
  • MC1DN8