NDUFS2 Recombinant Rabbit Monoclonal Antibody [JE65-29] (HA721079)

UNIPROT #

O75306

PROTEIN NAME

NDUFS2

SYNONYMS

CI 49 antibody;CI 49kD antibody;CI-49kD antibody;Complex 1, mitochondrial respiratory chain, 49 KD subunit antibody;Complex I 49kD antibody;Complex I 49kDa subunit antibody;Complex I-49kD antibody;mitochondrial antibody;NADH dehydrogenase (ubiquinone) Fe S protein 2 49kDa antibody;NADH dehydrogenase (ubiquinone) Fe S protein 2, 49kDa (NADH coenzyme Q reductase) antibody;NADH dehydrogenase [ubiquinone] iron sulfur protein 2, mitochondrial antibody;NADH dehydrogenase [ubiquinone] iron-sulfur protein 2 antibody;NADH ubiquinone oxidoreductase 49 kDa subunit antibody;NADH ubiquinone oxidoreductase NDUFS2 subunit antibody;NADH-ubiquinone oxidoreductase 49 kDa subunit antibody;NADH:ubiquinone oxidoreductase core subunit S2 antibody;Ndufs2 antibody;NDUS2_HUMAN antibody

SUBCELLULAR LOCATION

Mitochondrion inner membrane.

FUNCTION

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (NDUFS2) also known as NADH-ubiquinone oxidoreductase 49 kDa subunit is an enzyme that in humans is encoded by the NDUFS2 gene. The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mutations in this gene are associated with mitochondrial complex I deficiency. Mitochondrial complex I is the first multimeric complex of the respiratory chain that catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in the NDUFS2 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders. Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype–phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible. However, the majority of cases are caused by mutations in nuclear-encoded genes. It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.