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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 3145 Official gene symbol HMBS Full name hydroxymethylbilane synthase Aliases ,PBG-D,PBGD,PORC,UPS, Gene summary This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] Location Chromosome: 11   Locus: 11q23.3 Gene position 118955587 - 118964259  Map Viewer Gene orientation plus Gene size 8673 bp Gene sequence >HMBS:22518003..22526675:Length=8673 CCGGAAGTGACGCGAGGCTCTGCGGAGACCAGGAGTCAGACTGTAGGACGACCTCGGGTC CCACGTGTCCCCGGTACTCGCCGGCCGGAGCCCCCGGCTTCCCGGGGCCGGGGGACCTTA GCGGCACCCACACACAGCCTACTTTCCAAGCGGAGCCATGTCTGGTAACGGCAATGCGGC TGCAACGGCGGTGAGTGCTGAGCCGGTGACCAGCACACTTTGGGCTTCTGGACGAGCCGT GCAGCGATTGGCCCCAGGTTGCCATCCTCAGTCGTCTATTGGTCAGAACGGCTATCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAAAGGGCCAGTAGCTCGGT TGCCCTCCGGAAGGAATGGGGAAATCAGAGAGCGGTGATACTGGGTTAAGAGTGGAAGGA TTGTTTGGAACGGAACTCCGGTCCCTGCGGGCATCTGGGTGGGATTCCCATCAGGCCTGG GATGCACGGCTCTAGATTTAGTGACCCAGACCAAGAACGTTCGTCTACACAGACGGGGTC CTTTCATTCGAGGCTGGGCTGAGGCGGATGCAGATACGGCCCCTTTGGGAAGACACGTTC CACTTTTGATTCATAGGAGAGAGTATCAGCCAAGCCTCCGAACTGCACACAAACGTCTTA GAAGTGCGCCTTCTTTTTGTGTTATAGTGGTCTCCCAGCCACAGCCAACGCTCCAAGTCC CCAGCTGTGACACACCTACTGAATTACTACCGTGGGTGGGAGGCCGCCGTGGGCCTTTCC ATTACGAGCCTGCTTGCCGAGCCCTGGGCTTGTGCACAGACAAACTGCAGAGCTGGTGGA GGCCACTGCCAGGCCGAGATAAGAAAGAGATGGGGAGCTGCTAATCTCCCCCTGTCCAGC CTGTTGGTGAGGGCTGGGATCTTTGCTCTTGCAGTCATTCCAGAGCCCTGGACTAGGAGT AGGAAGATCTGAATTGTGGCCCCAACTCTCTTTCGGTTATTAGCTCTGTGACCCTAGGCA AGTCACCTCATCCCTTGATGCCACCCGTTGCTTCTGTAACATGGTCCCAAAGGTGCCTGT CTTGTCCACCTGATAGGATTTTTGAGACGACAACAATATGCAAAAGCAATAGCTTCAACA TAGAAGTGCTCAGTGTTTTATTTTTTAATGAAACGGTTTGACTTGGATATGCTGTGCACA TTCAATGAACTTAAGGAATTGTTTGAACCTAGTAGTTCTGGGACCTTAGAGTCCTTTCTG TGGGCTCCCTGTGGCCCAGAATTTTGGTGGCCACGTTTAATATCAAGCCTAGCCTAATTT GCAAAGGGTCTCCCAGGGTTAATTTATTGGAGTGATCACATGGAGTAGACCAGAGTCTGA GGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAA CTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAG GCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGAT TGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTA AAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGG CTAAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCACTGAGCCGAGACCGCGC CATTGCACTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAA AAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTC TGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCA GTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACT CTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCAGGGAATG TTGACTGTCGACAGTATCAGTATCTACAGTGGCTACTGTCTGATGTAGAAAGAAATGGGA TCAGGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGA GGATCACAAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATG TGAAAATTAGCTGGGCATGGTGGAACATGCCTGTAGTTCCAGCTTGAACCCAGGGGTGGA GGTTGTAGTGAGCCTAGATCACGCCACTGCACTCCAGCCTGAGCAAAACAGTGAGACTCT GTCTAAAAAAAAAAAAAAAAAAAGAGAGAAATGGGACCTCCGTCTTAGACTGAAGAATTC AGTTCTACGTGCTTAGCAGTGAATACTTTTGTCCAAGGTACTCTGGCAGGAGGAAGAGGC GTGTCCTCTTGAGTTCTTGACTTGGGCTCTGGCCTGTTAATATTTCCATGTTGGTGAAAC CAGAGGCAGCACTCTAGGTGCACGAACTTTAGGCAGCGCAGCCTCCTAGTCTTATGGAAC ATCTGAGGCAGAAGAAACCTGAGTCCAACCTTTTCATTTTATAGATGAACAAACAGATCC TGGTGGGACAGTGTACCCAAGGTCACCCAGCCAAGAGGCTGAGCAGGACTGTACGTCAGA TCCGTTTACCTCAGTCCTTAATGCATGCAGTCCAGCCAGATTAAGGGACCCTTAATACTG TCAGCTTTCCCCACTGTGGGATCTTCATCCTCTTGACTTCTTTTGTAGCCAGACATCTGG GCCTCTTGCTGGAGAAGGTGGCAGCTTGCTGCTCTTAGACTCTAGTCTACTCCATGTGGC ATCTGGATGGCACTGAAATTTTCTCAAGTGCCTTGTCTGTTGTAGATAATGAATCTATCC TCCAGTGACTCAGCACAGGTTCCCCAGTGTGGTCCTGGCTGCCCTGCCCCTGCCAGCTGC AGGCCCCACCCTTCCTGTGGCCAGGCTGATGGGCCTTATCTCTTTACCCACCTGGCTGTG CACAGCACTCCCACTGACAACTGCCTTGGTCAAGGTGGGCTTCAGGGCTCAGTGTCCTGG TTACTGCAGCGGCAGCAACAGCAGGTCCTACTATCGCCTCCCTCTAGTCTCTGCTTCTCT GGATCCCTGAGGAGGGCAGAAGGTACTGAGGAAGGTTAAAGGGACCAGCCTTGGAGTATT TCCCCACTCTGAGACTCAGCTGGCCACAGGCCAGGTTCTGAAGTTCCTTTCTTCCAAGCC AGTGATTCTGGTTCTTGGACAAGGTGTTGAGGAACACTAGAAACAGAGGGGACTGTGACC TGGGGACTTTTTCTGCAGGAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACC CGCAAGAGCCAGGTGGGTGCAGGAGCCGGGGTGGAGGAGGTTTGTCAGAACAGTTATGAT GCTCACAGCATCACAAATTGGGGGACTCAGAGGGTTAGTTCCTAGTATGAAGGAGATGGG GTGGCTGGGCGTTAAGTTCCCCGGGAAATGGCAGATTACATTCTATGGCAAGATCATCCC TAGGCTGGGAAAATTGTTGGAGTGCAGAGGGCTCCCAAGCCCCTTCTCATGCCCAGATGG AAATTCCAGTCCCTTCAGGATCTGCCTAACCTGTGACAGTCTAAAGAGTCTGAGCCGTGG CTGGGAAGGGCAGGACTAATCCAAGTCTCTACCCGCAGCTTGCTCGCATACAGACGGACA GTGTGGTGGCAACATTGAAAGCCTCGTACCCTGGCCTGCAGTTTGAAATCAGTGAGTTTT CTGGAAAGGAGTGGAAGCTAATGGGAAGCCCAGTACCCCGAGAGGAGAGAACACAACATT TCTGGCTTTGCCTATAGCTAAAGCCCGTCCCGCTGCCCCGAGATTCCTTCTGGGCTGCTC CCAGTTCTGAAGGTGCTTTCCTCTGAATACCTCCAGCTCTGACTACCTGGATTAGCCTGG CATTTAACATCTTGAGCTTTGGGTCTTTTTATGAGTGTTTCTGGTCTTCCTGCTCGATTG TATATACTCAGAGGGCAGGAACCAGGGATTATGTGCCTCTGTCCCCATCATGAATCGTAG CACAGCGCTAGGCTCAGTAAATGCTGATCAATAATGAGCACCTGATTGATTGACTCTCTC CTCAGTTGCTATGTCCACCACAGGGGACAAGATTCTTGATACTGCACTCTCTAAGGTAAC AACATCTTCCTCCCCAGTTCTTGTCCCCACTCTTCTTTCCTTCCCTGAAGGGATTCACTC AGGCTCTTTCTGTCCGGCAGATTGGAGAGAAAAGCCTGTTTACCAAGGAGCTTGAACATG CCCTGGAGAAGAATGAGTAAGTAAAGATAGGAGAGTGTGGTGCCCTCCCAGTCTCTTGCT GGGACCCTAGTATGCTAGGTCTCTTGCTGGGACCCGGGGTGTCAGATAGGCTGCTGGGCT TAAACCCTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGG AGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAG GGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCT TGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGG GTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCT CTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGG CTTCACCATCGGAGCCATCTGCAAGTAAGAGTCTTGCAAGTAAGGGGCTTGGGCAGGGGT AGGCATCATGTGAACCTTTGCCTTTCCCTTTGGGGCCTGACCCTCTGCTTCAGGGTTATC TCCTCTGCCCTGAGGAGTGTTGACTGGTGGCAGAAAACTCAAGAAATACCAGTGAGTTGG CAATCGAGAGAGAATAGAGGTGATCTGAACTTAAATCTCTTCCCTCATTCTGTGCCCTTC CCTCCTCCCCCAGGCGGGAAAACCCTCATGATGCTGTTGTCTTTCACCCAAAATTTGTTG GGAAGACCCTAGAAACCCTGCCAGAGAAGAGGTAAGTGGGGCCTGGATAGGCAGCTTGGT GGGATGTGCCCAGAAGATGCAGGGATGGGAGGAGGAGGAAAGGAACAGTGACTGCCTAGT GTTAAAATCTCATTGTAACTTCTCTCTGGGCAGTGTGGTGGGAACCAGCTCCCTGCGAAG AGCAGCCCAGCTGCAGAGAAAGTTCCCGCATCTGGAGTTCAGGAGTATTGTATCCTTTTA GAAGAGTGACGGATCCTTTTGGAAGAGTGACGGAGACAGCAGCCAAGGAAAAAGACAAGG TCTAGAGGGCTCTGGGAGTCCGGAGAGTGGAAGGGGCTTCCAGCAAGCAGCCCGTGGGGT CAGTGGCCTGTCTGTCTTTCCATGCACTCATCCGTCCACTCATTTACAGTCTAATGTTTT CTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAA CATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACT GAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCT GAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTG CAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGAT TACAGGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCAT GTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCAGCCTCGGCCTCCCAA AGGGCTGGGATTACAGGCTTGAGCCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTA CTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAA ATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTG GAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCT TGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATA CTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTT AGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGA GAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGG GAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGG GAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCC TGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTG CCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTT AGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTA GTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTC ACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCT TAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTT TCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCT TCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCC AGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACA CTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTT TAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCT GAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACAT ATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCC CAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGG GGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCC TGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGAC CAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATC GCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGG GACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAG TGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTG CCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCT CACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCT ATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGT GGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGC AACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGAT AGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAG GGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCC TTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGC TCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAA CTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGC CCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCC GGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACT GCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCT CCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAA CCAATCCTACTAATAAACCAGTTCTGAAGGTGT OMIM ID 609806