{"symbol":"NDUFA2","synonyms":["B8","CIB8","CD14"],"name":"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa","description":"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]","ncbiEntrezGeneId":4695,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4695","proteins":[{"symbol":"NDUA2_HUMAN","href":"/api/1.0/protein/NDUA2_HUMAN"}],"hgncRootFamilies":[{"name":"Mitochondrial respiratory chain complexes","href":"/api/1.0/gene_family/Mitochondrial+respiratory+chain+complexes"}]}