NDUFS2

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Description

NADH:ubiquinone oxidoreductase core subunit S2

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (161197104 - 161214723)

Ensembl ID

ENSG00000158864  (ver. 103.38)

Orthologs

Mouse Ndufs2: ENSMUSG00000013593

UniProt

O75306

neXtProt

NX_O75306

Human splice variants
Mouse splice variants

Protein structure