FEATURES

FAMILY

DESCRIPTION

Also known as NDUS2_MOUSE, Ndufs2. Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:26437605, PubMed:29887397, PubMed:31297047). Essential for the catalytic activity and assembly of complex I (PubMed:26437605, PubMed:29887397, PubMed:31297047). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174). Plays an important role in carotid body sensing of hypoxia (PubMed:26437605, PubMed:29887397). Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (PubMed:31297047). Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3. Interacts with NDUFAF7 (By similarity). Interacts with CERS2 (PubMed:32279995).

EXTERNAL LINKS

Ndufs2

Mutations

Mutation(s) distribution

Mutations table