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].
Function:
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.
Subunit:
Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3.
Subcellular Location:
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
DISEASE:
Defects in NDUFS2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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.
Similarity:
Belongs to the complex I 49 kDa subunit family.
SWISS:
O75306
Gene ID:
4720
Database links:
Entrez Gene: 4720 Human
Entrez Gene: 226646 Mouse
Entrez Gene: 289218 Rat
Omim: 602985 Human
SwissProt: O75306 Human
SwissProt: Q91WD5 Mouse
SwissProt: Q641Y2 Rat
Unigene: 173611 Human
Unigene: 21669 Mouse
Unigene: 225926 Rat
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Sample:
Small intestine (Mouse) Lysate at 40 ug
Primary: Anti- NDUFS2 (SL10455R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 49 kD
Observed band size: 49 kD
Sample:
heart (Mouse) Lysate at 40 ug
Primary: Anti-NDUFS2 (SL10455R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 49 kD
Observed band size: 49 kD
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