Recombinant Human NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (NDUFS6)

Uniprot Id

O75380

Target Species

Human

Target Name

NDUFS6

Target Full Name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

Target Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Target Involvement

Mitochondrial complex I deficiency (MT-C1D)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Target Protein Families

Complex I NDUFS6 subunit family

Target Synonyms

BC059730; CI 13kA; CI 13kD A ; CI-13kD-A; CI13KDA; Complex I 13kD A; Complex I 13kDa subunit A; Complex I mitochondrial respiratory chain 13 kD subunit; Complex I-13kD-A; IP13; MGC107676; NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron sulfur protein 6, mitochondrial; NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; NADH ubiquinone oxidoreductase 13 kDa A subunit; NADH-ubiquinone oxidoreductase 13 kDa-A subunit; NADH:ubiquinone oxidoreductase NDUFS6 subunit; NADH:ubiquinone oxidoreductase subunit S6; Ndufs6; NDUS6_HUMAN

Target Background

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.