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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NDUFA2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 4695 Official gene symbol NDUFA2 Full name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa Aliases ,B8,CD14, Gene summary 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. Location Chromosome: 5   Locus: 5q31 Gene position 140027370 - 140024948  Map Viewer Gene orientation minus Gene size 2423 bp Gene sequence >NDUFA2:complement(1187875..1190297):Length=2423 GCTTCCTGTTTTTCCCTCCGACCAACCCCGAGCGCAAAGAAATTGACCTCGCAGCGGTCC TACAATACTTTTATATCATTGGCCAAGCTTTACCCCGCCCCTGCCTCATGCAGCCTATGG GCTAGGCTTTAGGGTCCGCGGTTGGTCAGACCGGAGCACTTGGCCTGAAGACCTGGAATT GGCGACTTCGATATTAACAAGGATGGCGGCGGCCGCAGCAAGTCGAGGAGTCGGGGCAAA GCTGGGCCTGCGTGAGATTCGCATCCACTTATGTCAGCGCTCGCCCGGCAGCCAGGGCGT CAGGTGAGGCGCGGCGTGGTGAGGCGGGCGGGCTTCGGGACGCCAGGGTCACGACCTCGA CCTCCCTGAAGTTGAGGGAAGCCCCCGCCCACAGCACGCGCGGCGCTCTCTCCGGCCCCG CAGGGACTTCATTGAGAAACGCTACGTGGAGCTGAAGAAGGCGAATCCCGACCTACCCAT CCTAATCCGCGAATGCTCCGATGTGCAGCCCAAGCTCTGGGCCCGCTACGGTGAGTGCGG GACGCCAGGGGTCTGGGGCTCCGGTAGGGGAACAAGGGTTTGAGAAGAGAAGGGACCGCC CAAGGTCGTGCAGAAACCCGTGGAGAAACTAGAACTCGGACTTTAGCCTTGCTGTTGATC TTGTTTCCATGAAGAAATTTATATTCGCAGGGTTATATGATGCGTTGTATTCCGGGCAAC ATAAGTATGCAGGCTGACCGAATCCTGCGTAGGGACCAGGAGCTGACGTTTTTGTAGTTA AGAATGGGCTTCAGACAGGAGAGAAGTTAGTCAATATAGTTTCTCCAAATAACGTGTAGC CAGTGTCAGTCCAGGTAGTGTGTGAGAATCTCAGTAATTTTGCACATAGAGCTGGGCCCT GTGCTGAGTGCTTCCCTGCCTAACTCATTTAATCTTCATTAGTTAGGAGGAAGCGTGTTC TTCTTTTCTCACTGTAGAGATTAGAAAACGGAATCAAAACTTTGTTTTGCACTATTGTTA AACTCTAGCTGCAACTTTAGATGCAGCTAGAGTTTAACAGGATTGAGCCTTTACATTTAT TCCCCTTCCTAGAATGCACTTACCCCTCTAAGACTGGCATGGCAATGTATTGCAAAATGA AATTTTCCTATCATGTTGCCTAACACATTGTAGGTATGCAATAAATGTTTATACATACTG AATAACAGGATTTTAATCACAGCTTTTAACTATATGGTGCCCTGGGAATGACGGGAGGAG GTGGAGGAGAGTGACCACCTTAAGCAGATTGGTTCTCAGAGTAGATATCTGTGAGACACA GTAGACATTAGACATGCACTAATAATTGGAGAAGGAAAAAAGCTTCTCCTTCCAAAAGCC AGTAGACTACAGGAGGAGATAGACACGAGTAACTTTAGTGTATTGTGCTGGGTATTATGT TAGATAGCCTATGGGAGCCTAGAGAATGGGTACCCAGCTGGGTGCGGTGGTTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAAGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAACATACAAAAATTAGCCGGGTGT GGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGGAGGTGGAGGTTGCAGTGAGTGGAGATCGTGCCACCACACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAGAGAGAATGGGCTCCCAGCTGA GGCTGGACCCATGCAATACATTGCTCACCGTAGTTAATAATAAATGCCTACAGTGCCCCC GAAAGCTTCCCTGAAACAACCCATTGCGGCCATCCAGAATCAGCCAAAATTCTATTTGGA CTTGGGCTTCCTAGATGTGTTTGAGACCTATTGTATTAATTCTAGGCATACCAAATGTAT TTTGATCATATCTCTTTAATACTCTTCCTGTCTTAACAAGACTAAGATAAAGACAAAGAT CTTTTATTTTACTTTGGTAGCCTCCAGGGTGCAGAATAGTTAAAGACACCTCCCTCTCTC TCTTCAGCATTTGGCCAAGAGACGAATGTCCCTTTGAACAACTTCAGTGCTGATCAGGTA ACCAGAGCCCTGGAGAACGTTCTAAGTGGTAAAGCCTGAAGCCTCCACTGAGGATTAAGA GCAACAGCCCCAGAGCCTGGGCTCTGCTGGACTTAGTATAATGTGAAAAAAATGTGTTCT CCTATTCCTCATAAAGCTTGTGCTGTAAAATACTTTCTCAGGGTGTTCTTGTCCTCATCT ACCCTCTACCCCTTACTGTGCAACCACTGAGGCAAAGTAGCTTAATATAAAAATAAAACT TTATTCTGTCTCATCAAAAGCTA OMIM ID 602137