Gene: NDUFS2

Alternate names for this Gene: CI-49|MC1DN6

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: NADH:ubiquinone oxidoreductase core subunit S2

Type of Gene: protein-coding

rs150667550 in NDUFS2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 20819849 2010 The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

PMID 24215330 2013 Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

rs121434427 in NDUFS2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID 11220739 2001 Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.