Recombinant Human NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (NDUFA12)

Uniprot Id

Q9UI09

Target Species

Human

Target Name

NDUFA12

Target Full Name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

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

Leigh syndrome (LS)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Target Protein Families

Complex I NDUFA12 subunit family

Target Research Area

Signal Transduction

Target Synonyms

13 kDa differentiation associated protein ; 13 kDa differentiation-associated protein; 2410011G03Rik; AW112974; B17.2; CI-B17.2; CIB17.2; Complex I B17.2; Complex I B17.2 subunit; Complex I-B17.2; DAP13; MGC107642; MGC7999; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 12; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; NADH ubiquinone oxidoreductase subunit B17.2; NADH-ubiquinone oxidoreductase subunit B17.2; NDUAC_HUMAN; NDUFA12; RGD1311462

Target Background

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants.