Recombinant Human NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (NDUFS8)

Uniprot Id

O00217

Target Species

Human

Target Name

NDUFS8

Target Full Name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

Target Function

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. Essential for the catalytic activity and assembly of complex I.

Target Involvement

Leigh syndrome (LS)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Target Protein Families

Complex I 23 kDa subunit family

Target Tissue Specificity

Expressed in all tissues with the highest level in heart and skeletal muscle and the lowest level in lung.

Target Synonyms

CI 23kD; CI-23kD; Complex I 23kD ; Complex I-23kD; EC 1.6.5.3 ; EC 1.6.99.3; Human mitochondrial NADH dehydrogenase ubiquinone Fe S protein 8; NADH dehydrogenase [ubiquinone] iron-sulfur protein 8; mitochondrial; NADH ubiquinone oxidoreductase 23 kDa subunit ; NADH-ubiquinone oxidoreductase 23 kDa subunit; NDUFS8; NDUS8_HUMAN; TYKY ; TYKY subunit; Ubiquinoneiron sulfur protein 8; mitochondrial precursor

Target Background

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome.