Recombinant Human NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (NDUFS4)

Uniprot Id

O43181

Target Species

Human

Target Name

NDUFS4

Target Full Name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, 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); Leigh syndrome (LS)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Target Protein Families

Complex I NDUFS4 subunit family

Target Synonyms

AQDQ; CI 18; CI 18 kDa; CI AQDQ; CI-18 kDa; CI-AQDQ; Complex I 18 kDa; Complex I AQDQ; Complex I-18 kDa; Complex I-AQDQ; mitochondrial; mitochondrial respiratory chain complex I (18 KD subunit); NADH coenzyme Q reductase; NADH dehydrogenase (ubiquinone) Fe S protein 4 18kDa; NADH dehydrogenase [ubiquinone] iron-sulfur protein 4; NADH dehydrogenase; NADH ubiquinone oxidoreductase 18 kDa subunit; NADH-ubiquinone oxidoreductase 18 kDa subunit; NDUFS4; NDUS4_HUMAN

Target Background

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.