NDUFA2

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Description

NADH:ubiquinone oxidoreductase subunit A2

Protein family

Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

5:q31.3 (140638740 - 140647785)

Ensembl ID

ENSG00000131495  (ver. 84.38)

Orthologs

Mouse Ndufa2: ENSMUSG00000014294

UniProt

O43678

neXtProt

NX_O43678

Human splice variants
Mouse splice variants