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The protein encoded by NDUFS2 is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Zusätzlich bieten wir Ihnen NDUFS2 Antikörper (86) und NDUFS2 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
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Ndufs2-null mice lose the hyperventilatory response to hypoxia, although they respond to hypercapnia. Ndufs2-deficient CB cells have normal functions and ATP content but are insensitive to changes in PO2.
compound heterozygosity for severe and hypomorphic NDUFS2 mutations can cause non-syndromic hereditary optic neuropathy.
Results found nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction.
NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were compound heterozygotes for an undescribed E104A mutation in NDUFS2
The NDUFS2 mutation affects complex I enzymatic function.
Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes.
Data suggest that the active site domain of NDUFS2 (a 49 kDa subunit of mitochondrial complex I) in bovine heart mitochondria exhibits more than one access path by which ligands/chemicals can reach reactive residues.
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.
, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
, NADH-coenzyme Q reductase
, NADH-ubiquinone oxidoreductase 49 kDa subunit
, complex I-49kD
, NADH-ubiquinone oxidoreductase NDUFS2 subunit
, complex 1, mitochondrial respiratory chain, 49-KD subunit
, complex I 49kDa subunit
, mitochondrial complex I subunit NDUFS2