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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PCBD1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5092 Official gene symbol PCBD1 Full name pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha Aliases ,DCOH,PCBD,PCD,PHS, Gene summary This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq] Location Chromosome: 10   Locus: 10q22 Gene position 72648541 - 72643267  Map Viewer Gene orientation minus Gene size 5275 bp Gene sequence >PCBD1:complement(23447731..23453005):Length=5275 CGGGGTGGGATTCCAACCCAGAAGCGGGCATTTGGAGCCCTCATGCTTCACCCTAGCTCC CTGAAACAAGCACGGAGGATGGCTCTGAGCAGCGAGGAAAGTGCTGGAAGCAAGCAGGCC GAGCGCGTCCCTGGCTGGGGACGTTAATCATTACCGGAGGGCGGCCCGAGCGCGGCCCCG CCCCGGGACGGCAGCCTGCGCGCCCGGCCGCCGCCTGCCCTCTCCGCTGGCCACCTGCTG CCGCCCGCGCCATGGTGAGTCCAGGGGTGCGCGGCCGCGATCGGGGCAGCGGGGCCGGGG CAGCCGCGGGCGAGGTGGGAGCGGGAAGGGGCGGGGGAAAGTCTTTTCGAGTCCCCTGCG GAGCCGCCGGGGTCCGAAAGTGGGGTCTCTGCCCGGCTCTCTGTCGCTGGCGGCGGGGAG GGGAAGCTGAAGCCCTGAGAGGGGCGGTGGCGGGTTCGAATCCCACCCAGTTGGGAGGCC AGGCCTGCCCTGACCCCGGCCAGTGCTTGTTCCGGGACCCTTCCGGGGGCGGGGCCTACG ACCTTCCTGGGCCGGGGAAGACAGTCGTGGAGGAGTCCACGGATCTCGTCCCCTTGGTGG CCCGATTCTGCTTTATACTGGGGTGGGAGCGAGAGGGAGGCTGAGTTTGCGCGCTCGTGT GCGTGCCTGTCCGCTGCCCCTTCCCGCTGGCACTCTGGGTACGGGGTCTGCCTGGGACTC ACGCTCTGCGCCGGTATGCTGGCCCCAGAGCCACTCCCCGCGCCGGCTTGAGGCCCGTGC CAGGCCACGGGGGCTTGGTGGCGCTGGAGCAGCCCTCCTCCCGTGAGCTTCCCCCACCCA CCCCCGGGGCGGGGGCGGGGGCGGGGCCCTTGCTCTGCTGTAAGCTCGCGAGCTTCATCA GACCATTTCTGGTCCACAGGCCTTCGGAGCAGGCAAGACTGGGAGGGCCTTTTGATAGGA GAGGGACTTGGGGGAGGGAGGATGAGTGGGGCTGTTTGTGAGGGGCGCTGAGGTCCCAGA GATGCAGGCTTGGGAAATCGGTAACCACTCCCCACACCTCGCCAGAGGAGGCAAACGGGG CAGCGTCCCCCTCTCTGTCTCCAGAGCCGGCACCTGGAAGGTTTGTCAGTTCAGCCGCAG GCTGTGCGACCTGGGGGGTTCCAGAAGGCTCTACCGAGAAAGGGAAGCCTCCTAAGAGCT CACCTGGACTCACCCACCCCTTTAAGAGCCAAGGAAGTAAACAGTGGGCTCTGATGCTTT GGCTGACTTCTGGTTGTCTAGATACACGGACCAGGCGGTCAGCCACGGGGAGAAGGCCAG CTCTGGAGTAGAGACCTACCTACTGGGCAGATGATGCAAATCGCTGCTGCCATTCAATCC CTATAGTCATCCAGAGCCGAGGGGAAGAGAGGGGCCAAGCTACATCAGTCCAGAGAGAGC TCACGTTTTCAGGAGGGAAAACAGCAGGGAAAAAAGACGGACTTAGGAAAGCACTGCGAT GCTTCAGCTACCCCAAATGCTACCAGGCCCATCACAAGCCTGCTTGCCTTAGGAAGTTTT TTTTTTGTAATGCAGATGACATTTGCTTTATAGCAGTGGAGTTTCCTAAAGTGTCCCATT GGCACCTCATGATGATCTGTGGAGGTGGAGGTTCTGCCAAGAGAGGTACAGCCACCTGGC TGGTAAATGGTGAAAGCGGGTCTCAAAACTCCTGCCAATCAACACATGGTGTCCAGTCTG CAGGCTGCCTCATAAAAGCTAAATCAACCTCCCTCACATTCCCTCCCCACCCCTAAGGGT ATCTTTTCAATTCAGCACTCTATTTCTGCCCTGGGGTGGTGCTACTCTAGAAGCCTAGGT TCTGGGATCTGTTAAGCTCCTAGACCTGGATCCTCCTAGGATGAAACTGACCCTTGCTTC CTTGCTTTCTCTGAGGTTCCACTCATGGCCTGAATTGTGCCAATTTGGGCTGCCTTGAGG GCACTTCGCACATTAGGTAAATAGGATGGGGCACTAGGTTTGCCAGCTGCCTTTGGCCAA GTTCCTTCCACTTTGGCCTGAGCTTCCCAACCAGCCAGAAAAGCAGACGGAAAACCAGAG AAACCTAGCCCTGGCGGCTCAGGACCAGAGGCTGCCTGGGAGCATGACTGAGGACCTACT AGAGGTAGTGCCAACGGCGGTCAGCTGCAGTGTGGCTAAGAATGGGATGGACACTTATTT TAAATGTAGCTCCTTCGTCCAGCCCCAGCAATGCTGACACACAGACAACACTGCGCCATC ACTGGCTAGGGGTGGGCGGGAAAGAACAGCAGACAAGTCGTTTCCCCTCTCTAGGCCTGT TTCCTCTTCAATACACGTGAAAGTTACGGTAGGGACGTGGGGTGCATATGATGAAGTACA TAATAGGAAAAGGAAGGGGGGAGAGTCATGGGTACTCTTCCTGAGAGGTTGTGGAGTAAC ATATTTGCATCTGGGATTTATTTTGCTTTTACGCCCTCACTGATGTAATAATCTCATGGA GGGAAGGTCCGTAAGGCTTTGAGGGCAGGGTGGGGGAAGAGTGCTTCTCTGTCCCCGTCA TATGAATTACATTGCTTTTGTGATTTCCCTTGTGTGTGTGTGGAGTGTTAAAACCCAAGA CCTGAGGGCCTATCGGCAGACGAGCCTGGACCCCACCTCCTGGGCAGGGTGCCACCCTTG AGGCCTCCCAGCCTATTGCTCAAAGACCTGCTGCCCTTTGGTCACCCACGTCCAAAGCAG CCAGTGGAAGCTAAGTTCCCCTAAAGGTTGGAGCCCCTCTGTTTTGACCTATAAAGAGAA ATGCCCTTGGGCCTCTGTTTTTTTCCCTCTTCTAGGCTGGCAAAGCACACAGGCTGAGCG CTGAGGAGAGGGACCAGCTGCTGCCAAACCTGAGGGCTGTGGGGTGGAATGAGCTGGAAG GCCGTGATGCCATCTTCAAGCAGTTTCATTTCAAAGACTTCAACAGGGTATGGCACCAGG GTGGGACAGAGTTTTCTGAGACGGGCTGATGGGGTCACCTTACAAAGCATGTTCTCTCCC TTCACGTCTTGTTAGCCAAGACTCTCAGACACCACACTCATCCAGTTATTTGGGCACTGT GCCAGTGGGGAAATTAATTTTCCTGTCTAACTCAGAAAGTATCATCTTTGGGGATTGGAG AGCCATAGGAGGATGTGTCTTGGGCTCTCCCTTCCTGGAACTTTTAGCAGCAGTCTTCTG AGGAGATAGTTCAAGTGGAAACCATGCACATCTGAAGACATTTGAACAGACGGCCAAGAC TGGCCAGGCCAAAAGCCTGTTGTGGTGTTTCCACCTTGTTGACATCCTAAATAGCAAGAC TTTCTTCCTACTGCAAGGACAATCTCTAACTCAAGCCTGAGAACCAGTGACAGGATGTCA AGGGGGAAATGATTATAGAGGAGTCTCCTGGGGGGAAGCTAATTCATCCTCCTGCGTCTA GGCCTTGAATTGGTGATGTCCAGAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACT CCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGAC CACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGT GCTCTGCCCCCATCCAAATACTGCGAACTCTGACACATTCTGAAGGCTTTTGGACTTAAC AATGAGCCTTCCTGACCCATAGGTCATCCACTCATCTCATTTCCAATCTCACTGAGATTG CACATGCCTAGAATCAACATAAATACCCCTGGGAAAAAAAAATCAGTCTTACTATAAAGA AATGCAAATTAAAAGATGCATGAGATAGTTGTGGTTAAAGTAGACATTTAAGTAGACATT AAGAAGGCAAAACCCAAGAAAGGAAAGGCTGTGGGAATCAGGCATACTTATTCAGTGTTC ATAGCTCTAAATGGCTTTAATCTTGCTGGAGGTATGGAAGAATGAAAAAGTAATAAACTT GAACTAAGAATACACACATATTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGAT CAAGACCCTCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAAAATTAG GCGGGCGCGGTGGTGGACGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATG GTGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATTGAGCCACTGCACTCCAGCCT GGGAGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATACAGACACATAGC CAACCTATCAAATTATTTGCTTAATGAATAGAAACAGTCATTAAATGTCTACCATGTGCC AAAAGCTCTGCTGGTCTCTGTTTATAAAAACAGTAAGGGTGGAAGAGGTCGTCTATGAAT GGATAGTGTTTAGGAGTTGGCATTGGTTTTTGGTTTTGTCTTTAGCTTTTAGGTTGCTCT TGACATTCAGATATTAAGCTTTTATTCTATAGCTGAAGTCATGATTATTTTTGAGAGACA GCAAAGGGGAGATGTAGAAGATGTTGTTACAGACATGTCAGGAAGGAGTCCCCAGGAGAG ATCGTACTGGCCAGCTGCTATTCTGGAGCTCCTAGCAGGGCTGAGCCCAGCAGCTAGTGA CTCCCTCCTGTTCTTAAGTGAAGTCAGTGGAAGCAGAATTTCTGGTTTCATTTCAGGTCC ACATCACGCTGAGCACCCATGAGTGTGCCGGCCTTTCAGAACGGGACATAAACCTGGCCA GCTTCATCGAACAAGTAGCAGTGTCCATGACATAGACCCTGCCCTTCCTCTTTGAATTCT TCCGGGGGAAGGGGTGACTGAACTGGGAGTCCAGGGAGGGAGCTGAGGAGCCCTTACCCT CCCACCACTCCCCTCCCAAGACCCAGCCGCCGCCGTTGAGGGCTGAGTCCTTGCTGTGGG ATGTGCCAGTGTCCCCACCAACACCAGGAATTTAGACCTTTTCCCTGCACCACTCTCTTC ATCCTGGGGGCTCTGTTACACTAATTTGAATAAACTCTCCCCTTTCTTTGCAACTTCCCA GCAACAATAATGATTTTCTTGCCAGGCCGTCTCTTGCTCCCTAATTCATTTCCCAGGAAG CTGTGATACAGGGTGAAATAAAGTCTTGTCTTAGAAACCAGGACCCTAAACCCCACACTA TGTAATAGAAACACATGTGTTTTTATGTCTCAAATAAAACTATTATATCACTTGG OMIM ID 126090