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

Gene: FCER1G

Alternate names for this Gene: FCRG

Gene Summary: The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: Fc fragment of IgE receptor Ig

Type of Gene: protein-coding

rs121434429 in NDUFS2;FCER1G 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.