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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 5162 Official gene symbol PDHB Full name pyruvate dehydrogenase (lipoamide) beta Aliases ,DKFZp564K0164,PHE1B, Gene summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] Location Chromosome: 3   Locus: 3p21.1-p14.2 Gene position 58419579 - 58413357  Map Viewer Gene orientation minus Gene size 6223 bp Gene sequence >PDHB:complement(58353357..58359579):Length=6223 CCCCTCTGTTGTCGTTTGGCAGCGGATAGAGGACACGACCAAGATGGCGGCGGTGTCTGG CTTGGTGCGGAGACCCCTTCGGGAGGTAGGCAGCAGCGCGCGGCCTGTATTCCCACGCGA CCCCTGCCCACCCTGCGTCCCGCCGTCATCTTCCTCTCTCCCTGCCAGGTCTCCGGGCTG CTGAAGAGGCGCTTTCACTGGACCGCGCCGGCTGCGCTGCAGGTAACAGGCGCGGGTGCT CGTCGGACGAGGGCGGGGAGGGTCCCCCCTTCTCTCGGGAAGGAGGCCGGAGTCGCGCCT GCGCTGTGGCCTTCCGGCGCCGTGGGCCTTGGGTTTGCGGAGCCAGCATCCTCCGTGGAG CTCCTGCTGCCTCTGTCGCCGCCTGGCAATTAGCACACCGGCGAGTCACCACCTCACAGC TGGCTGGGCAATGGGGGAAAACTAAGACTAGGCGTTTCCTCCCTCACTCCATGTTTTTTT CTTTAAATTGCAGCAAAATAGACCTAACTTAAAATGTACTTTTTAGAAGTGTATAATTCA GTGGCATTAAGTACATTCACCATGTTGTACAACCATTAACCACCATCCATTTCCAGAACT TTTTAATCATCCCAAGCAGAAACTGTCCATTACTCGGTAACTCCTCATTTCCCTTCCCCA AACCCCTGGTAACCCCTGTTGTACTTTTCTGTCTTTATGAGGTTGCCTATTCTAGAACTT CTTATAAGTGGCATCATTTGTCCTTTTGTGTCTGGCTTATCTCAGCGTAATGTCCTCAAG GTTCATCCATGTTGTAGCATGCGTCAGAGTTTGATTCTTTCCTAAGGCTGAATAATATAT ATATGTATATTTTTTTGAGATAGTCTCCCTCTGTCACCCAGGTTGGAGTGCAGTGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGGGATTCTCGCGCCTCACACTCC TGAGTAGCTGTGATTAGATGCCGGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTA CAGACAGGGTCTCACCATATTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCTCGCTCAGCCCGAC ATTTTCTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCTGCCCAGGCTAGAGTGCAGTG GCACTATCTCAGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTGCCTCAGCCT CCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCGGCCAATTTTTGTATTTTTAG TAGAGAATGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTGATC CACCTGCCTTGGCCTCCCAGAGTGCTGGAATTACAGGTGTGAGCCACCGTGCCTGGCCTT GTTTTGTCTATTGTGAGTAATGCTGCTGTGAACATTGATGTGCAAGTATATGCTTGAATC CCTGCTTTCAATTATTTGGGGCATATACATAGAAGTGGAATTGATGGATTGTATGTTAAT TCTCCTCTCCTTCCTTTTTTTAACTAGATTTTACCATTCATTATATTAAAAGAGCAACTC CTACATTCTGGATGCAAAGTATTTGGCAGTACTTGGCACCTAGTGAGCACTCAGTACATT AACACATGCAAAGACCAACTATGTGTAATAGAAATGTTACTTTTAGAATTCTTTGAGTTT TTAGAGAGAAGCTTGTTCTAGTGTTTTTATATTGTATGCTGTGGGCAGCCTAGGTAAATA TAAAGGAAGAAAATCTTAGTTGAATCCCAAACAATTCTGTATTGACTGTTTTTGCATACC TGTGACAGGTGACAGTTCGTGATGCTATAAATCAGGGTATGGATGAGGAGCTGGAAAGAG ATGAGAAGGTATTTCTGCTTGGAGAAGAAGTTGCCCAGTATGATGGGGCATACAAGGTAA CTAAAATATATGAAAGTTATACAAAATTGAGGTCACTGTTACCCCCAGATACACTTAAGG GATCAACTCTTAATTGTAGGTTAGTCGAGGGCTGTGGAAGAAATATGGAGACAAGAGGAT TATTGACACTCCCATATCAGAGGTAAGCCTTCCAGTGGGAAGCAGACCCTGGAGGGCATG TCTGTTAGTGTCCATTATCCTCATTTTTATGGATTTTCACTTATGTTTATATTTTACTTT ATAGATGGGCTTTGCTGGAATTGCTGTAGGTGCAGCTATGGTATGTAATACTCTTTATGA AACTTATCCAAAGACATTTCTTGTTTTCTTTTTTTTTCTTTTGAGACAGAGTCTCACTCT GTTGTCCAGCCTGGAGTGCACTGGCACCATCTCAGCTTCCAGGTTCAAGCAATTCTCCTG CCTCAGCCTCCATAGTGGCTGGGGTTACAGGTCGCGCCACTGTGCCTAGCCAATTTTTGT GTTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTC AAGTGATCCGACCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGC CCATCCCCAAAGAGATTTAACATCACCTTTTAAAAACATCATTTGGGAAAAAAAAAAAAT ACCAAGTAGGTAGATGTGGTGGTGCTTGCCTGCAGTCCCAGCTACTCGGGATGCTGAGGA AGGATTACTTGAGCCTAGGAGTTAGAGGCTGCAGTGAGCTATGATGTGTGCCACTGCACT CCAGCATGGGTGACAGTGAGACCCTGTCCATAAAAAATAAAAATAAAAAATAAAAACATT ATTTGAATGTTGGAAGACTTGGAGTGATTTGTTTGCTACTGTTTGTTGCTGTTTCTAGTC TTTTTAACATCCACGTTTTTGATTTTACAGGCTGGGTTGCGGCCCATTTGTGAATTTATG ACCTTCAATTTCTCCATGCAAGCCATTGACCAGGTTATAAACTCAGCTGCCAAGACCTAC TACATGTCTGGTGGCCTTCAGCCTGTGCCTATAGTCTTCAGAGGGCCCAATGGTGCCTCA GCAGGTGTAGCTGCCCAGCACTCACAGTGCTTTGCTGCCTGGTATGGGCACTGCCCAGGC TTAAAGGTGGTCAGTCCCTGGAATTCAGAGGATGCTAAAGGACTTATTAAATCAGCCATT CGGGATAACAATCCAGGTCAGCACAGGGACCCTTTGGTTTTTTTTGAAGATTGAAAAACT AAAATGATATATTTGCACAGAGGAAACCATTAAAGTCTTTTAGTTAGGCTTAGATATATC GTATAGAATGTTAATACTTTATATAGTAAAGATAGTAAAGAATGTGCTTGCTTTTCCTAT TTCCGAATATAAGGGGGCCAGCTAGGTAAAGGGGACATTTACTGCACACCCACAATACTG GTTTGATAGATAAAATTATATTGACCACTACAAATTTAAGTACCTAAACTGCTCTCAAGG CTGCTGGTCATGGTAGAGATAAGGCTAATCAGCACAATGAAACTTCTCACAAGATGAATG ATATTGCTTTCTATGCAGTTTTAGTCATTCTGGATGTGATTAATTACTTTTGTTTAAATA TTTATGTTTTTCAGTGGTGGTGCTAGAGAATGAATTGATGTATGGGGTTCCTTTTGAATT TCCTCCGGAAGCTCAGTCAAAAGATTTTCTGATTCCTATTGGAAAAGCCAAAATAGAAAG GCAAGGTAAGAAAACTAAGATATATAAACAGTATTTTTAATCCAGCCCCTCAATTTTGGT AAAATTTAATCTAGAAGTTACTGTCATTTACTTTGACTGAAAAATTATAGGATGAGCTCA AGATGCCCCAATTTCTCATTCAGTTGTGCTTTTCTAGATCTCAGTCTGGTAGGTTTGTGT TTCATTTCTAGGAAGGCTGCCACATTCCTCAGCTCACTGGAATGAAGTTGAATTGAAGAC TTTATGAATGAACAAGAGCCACAGCTGGCGGCACAGTGGTGTAGCATCTTCAGTTTCAAC CTGATCTCTGATCTGTGACCACTCTGTTTTCAGGAACACATATAACTGTGGTTTCCCATT CAAGACCTGTGGGCCACTGCTTAGAAGCTGCAGCAGTGCTATCTAAAGAAGGAGTTGAAT GTGAGGTGAGTGGACATTTACTTGTTCTTAAAGAATTAGAAGGGCTCCTTTTAGATTTAA GACCCAGAAGAGTTCTGTAACAGGTTAATTAGATGTAAAACCTTGCTTTGTCACTCATTT CTGTCTCTGCTTAAAGCTGGGAACCTGCCTGCAGTTCACATACTTAGCTTTTTACCACTC AGGTCACTTAGGTTCTGGATCTTTTTTTTTGAGAGACAGTGGGAGCTCTCTGAACCTCTT CTGGTTCTCAGTGATACCCCCCGAGAGAGAAAAAAACAGGCTTTTGTTCTGTTGCCCAGG CTGAAGTGCAGTGGCTGGATCATGGCTCACTGTAACCGTGAACTCCTGGGCCCAAGTGAT GCTCCCACCTCACCCTTCTGAGGTTCTGGATCTTTTAGAAACTCACCATGTGCTAGTTAT ACTTGGGCAAGTTATATACTCTAAATCTGTTTCATCAGCTATAAAACAGGGATAATATAA ATACTGTCCCGTCATAGGGCTGTTGTGAGAATTACACTTAGTGTAGTGCTTGGTACATGA TGGGCACTCAGCTGTTAACTGTTAACTCATTTTGATGAGGGAATTTAAAGTGAAGGAGGA TTGGCTGGGCGTGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGT TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTCTATGCCTGTA ATCCCAGCTACTCCAGAGGCTGAGGCAGGAAAATGGCTTGAACTGGGAAGGCGGGGGTGG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCC CAAAAGAAATAAAAAAGTGAAGGAAGATAAATGAATCCTATAACTGCACAGAGCTGCTTG TGGTAGACATACAGATCTTTGTTTTAATTAAAATTTTTCCTTTTACAGTTTGTACATTCA TGAATAGGTATTCATAGGCAGATTAGATTTTCCTAGATACAAAGATTAACAGGAAACAAA AAAGGAAATGGTATTATGGGGATAAGGCTCTATTTGTGCTGCAATAGCTCTGTAAACTTG ATTATATTACCTGTTTAGGTGATAAATATGCGTACCATTAGACCAATGGACATGGAAACC ATAGAAGCCAGTGTCATGAAGACAAATCATCTTGTAACTGTGGAAGGAGGCTGGCCACAG TTTGGAGTAGGAGCTGAAATCTGTGCCAGGATCATGGAAGGTATTTCAAAGAAACTGGTT CTAGAATACAGTCAAGCTATAGTAAACATCATGTACCTGAATACGTACAGGATAAAGAGA TTGAAAGCTAGGAGTGGCCAAACGACTTCAACTTTAAACTTGTAAGTTTGGCATTTCTCT TCAGGCAGATATTTTTAAAAGCAAATCCAGAAAGCGGTTCCCCATAATTAGCATTCCTTA CATTTTCTCTTCCTGGTCAGCCACACCTCTGTGCCAAGGTGGTAGTGCCCAGCTGGCATT TGCACTCTCTCAGTTGAGCCTTCCTTCTCCTAGGTCCTGCGTTCAATTTCCTGGATGCTC CTGCTGTTCGTGTCACTGGTGCTGATGTCCCTATGCCTTATGCAAAGATTCTAGAGGACA ACTCTATACCTCAGGTCAAAGACATCATATTTGCAATAAAGAAAACATTAAATATTTAGT TTGGACTTGAATATCAAGTCGTTGAAATTTATTTGAAATACTTGCTGGCACTGCACCTGG ATTTGTACTGCAAGACCTGACTATTCATAACGGAAAACGATTTCTAAAGCAACAGCAGGT ATTTTTGTACAGGGAAGTTTAAATGTGTTTGTGTATGGAAAACTCTCCACTCTCCTCCCC TAGATGCCATGCTTCCTTTTGTCTGTTACGGTTGCCATGTTCTTTGAATAACAAATTATA TAACATTTTATCCTCTCTCACCACAAGGACAAAGTATGGATGTGGCAGAGTCCTCATGAA AGATGTATCCAAACAAGATAACTTATATGTATAAAATTAAAGCATATAATATACATTTAC TGTTAGTTTGTTTTGATAAGGAATAAAGGAATTTCTAACATGA OMIM ID 179060