NDUFA12

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. [provided by RefSeq, Apr 2012]

Description

NADH:ubiquinone oxidoreductase subunit A12

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (94897055 - 95003748)

Ensembl ID

ENSG00000184752  (ver. 103.38)

Orthologs

Mouse Ndufa12: ENSMUSG00000020022

UniProt

Q9UI09

neXtProt

NX_Q9UI09

Human splice variants
Mouse splice variants

Protein structure