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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 5313 Official gene symbol PKLR Full name pyruvate kinase, liver and RBC Aliases ,PK1,PKL,PKR,PKRL,RPK, Gene summary The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] Location Chromosome: 1   Locus: 1q21 Gene position 155271225 - 155259084  Map Viewer Gene orientation minus Gene size 12142 bp Gene sequence >PKLR:complement(94316..106457):Length=12142 CATTCCATGGTCCCGCAGCCCCAGGCCCACACTGAAAGCATGTCGATCCAGGAGAACATA TCATCCCTGCAGCTTCGGTCATGGGTCTCTAAGTCCCAAAGAGACTTAGCAAAGTCCATC CTGATTGGGGCTCCAGGAGGTAAGAAGGGGAGACAGAAGCCATGGAACATAGGAGGAAAA TGAGGGTGAAAACTAGGAGCCAGGGTGGAGGGCATAAATGATCCACATCAGCCACTGGCT AGGTGGGTTTTGGAGAGGAACGTACGTTCTTCAGAGCCTCCCGTGTGTTAAATTATGGAC CCTGGCCTGGGTCTTTTCCAGGCCCTATAGGCAGGCCAGAGCCACAGCATGTAAGCCACG GGGCACTCCCGTGGTTCCTGGACTCTGGCCCCTGGCATACAGGGCTTCCAATGGAACAGG AGACAGTGGTGACACTTTAACCAGTCTGCAGAACTGATCCCCAGCCCAGCTGGGCCTCAT GCCTCTGACAACCCAACAGTGTGGAGCAGACCCACAGAGAGGGAGACCCAGAGAGGTGTG CAGTGGCATGGAAGGTGCGGCTGGAATCGGGGGCTCCTCTGAACTGGGATGGGTCAAGCT ACAGGGACCTCTGTGTCTGTAGCAGCTTTGAGAAGCCTGGGGAGACTCAGAGGATGGGGT GGGGAAGCCAGCCAGTAGCCAGGGGTTGGAAGGGAGAAAACAGAGACCTTTGGAGCAGGA ACTGGGTGATTCTGGGTCTGCATAGGGTGAGGCTGCTGGGGACTAGACATCAAGGGGTGG TGGGGTTGAGGGTCATCAGTAGCTGCAGGTCGGGGGGTCCTGGGTTGTGCGGGGTCAGTA TAACTGAGTGGTCAAGAACTTGGGCTAGAGTTAGTCAGACCTAGATTTGAATCCTAGCTG ATCCATACTTAGAAGCTGTATAATATTGGACCATTTATTTCCTGTTTCTCAGCCTCTGTT TCTTTATCCATAAAATTGGATAATTATAGAACATTTAACAGTACCTGCTTTATAGGATCC TTGTGACATAATAAAATAATATATGCATGATGCCCAGCTCATAAGAAGGGAAGGAACAGA GGGTATGCTGAGAGACGAAGGCATGGGGAGGAAGGGCAGGTGACATGCAGTCCCTGAGCC CCCTTCTACCACAGGGCCAGCGGGGTATCTGCGGCGGGCCAGTGTGGCCCAACTGACCCA GGAGCTGGGCACTGCCTTCTTCCAGCAGCAGCAGCTGCCAGCTGCTATGGCAGACACCTT CCTGGAACACCTCTGCCTACTGGACATTGACTCCGAGCCCGTGGCTGCTCGCAGTACCAG CATCATTGCCACCATCGGTAAGCACTCCCATCCCCCTGCAGCCACACAGGGCCTATTGGT ATTTCTTGAGGTGCTTCTTCATCTTTTGTCTCCTTTGAGACTTCTCCATGTTTGACACAG TCATTCATTTAACAAAAATTTGTTGAGCATATAGTAGACAAGATTTTGGGCCCTGGGAGT AGATCAGTGAAAAAAACAGACAAAAATCCCTACCCTTGGGGAGCTGACAGTCTAGCTGAG TATGACAATAAATAGTAAGCACAATAAATTATTTAAAATAAGTAAATTATTTATTCCGTT AGAAAGTGAGGCCGGGCATGGTGGCTCATGCCTGTAATCGCAGCATGTTGGGAGGCCCAG GTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGAGAAACCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGTGCCTGCAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGACTGTGGTGAGCCG AGATCACACCATTGCATTCCAGCCTGGGCAACAGGAGAAAAACTCCATCTCACAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGTGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAG CACTTTAGGAGGCCAAGGTTGGCAGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGG TAAATGGCAAAACCCATCTCTACAAAAAATACAAAACTTAGTTGAGTGTGGTGGTGCATG CCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCA CGGCTGCAGTGAGTCATGATCGAGCCACTGTACTCCAGCCTAGGTGACAGACGAGACCCT AGAGAGAAAGAGAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAA GGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGCAAGCAGGCA AGAAAGAAAGAAAGAAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAGTGAAAGTTGGCCGGGCATGGTGGCTCTTGCCTATAA TCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGGGTCCGAGACCAG CCTGGCTAATGTGGTGAAACTCTGTTTCTACTAAAAATACAAAAAATTAGCCAGGCATGG TGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCC GGGAGACAGAGATTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGTTTGGGCAACAAG AGCGAAACTCTGTTTGTTTGTTTGTTTGTTTTTAAAAAAAGAAAAAAAAGCTGGGCGCGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTC AGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAT TATCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGA ATTGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACCCCAG CCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGGCCAGGCGTGGTGTTTCA TGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACTGATCACGAGGTCAAGAGATCG ATACCATCCTGGCCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGCTGG GCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTT GAACTGGAAGGCAGGGAGCAGAGATCGCACCTCTGTCCTCCAGCCTGGTGACAGAGCGAG ATTCCATCTAAAAAAAAAAGAAAAGAAAAGAAAGAAAAAGTGAAAGTTTTAAGTGCTATG GGGAAAGAAATCAAGTGTGATAAGGGCATCAGGAGTACGAGGGTGAAGACAGGTTGCAGC CCTAAATAGGGAGGTCAGTTATTATTGAGTAAATGAGACCAAAGGGAAGACTTGAAGGAG ATGAGAGAATTAGCCATGCAGAGACCTGGGGGAAGAGAATTCCAGGAAGAAGGATCAGTC AGTGTCAAGGCCTAAGTCAAGAAGGTTAGAAGAGCTAGAAACCATCAAGGGGGAAGAGCG GCAGACATGAAGAGACTGTGTACGGACAGGAAGATCAGGTGCAGCTTTGTAGGCCATTTT TAGAATTTGAGTTGCGTTTTCCTCCGAGTGAAATGAGAAACTGCTGCAGGGTTTTGAGCA GGGGAATGACAAGCTCTTATTTATGTTTTAATAGAGCCTCCCCTCCCCTGCTGCTGCACT GAAAATAGATGGGGGGTGGGGGGAAGGGTGCCCCTGCAGTATTTCTGGCTCAGACCAGTT GGCGGCAGTGAGGTGGTGAGAAGTGGTCAGATTCTGAATGTATTTTGCAGGTAGAGCTGA CAGGATTTGCTAATTGATCGGATATGGGGTATGGAGTGTGGGCGAGAAAGAAAGGAGTCA AAGGTGACAGGTGACTCTGAGGTTTTTGCCATAAGGAACTGGAACGATGCATTAGCCACT GAGCAGGAAAGACTGTGGTGGAAGGGGTTGGGGGGAGAGCAGAAGTTTGCTTGGGACATG TTGAGTCTGAGATGCTTATTAGCCATCCAAATGTGATAGAGGGGGCAGTCAGGTACACAA CTCTGGGTTTGGGAGAAAGGTCTGGATTGGAGAGACATTTGGGAGTTGGCTACATATAGA TGGTATCTCAAGCCATGAGACTAGTTGAGACCACCAAAGGAGTGTAGGTGAAATGACGGA GAAGAGAACAGGGTATCTAACGTTAAGGGGAGGAACAAGGAAAGGAGACTGGGAAAGAGC AGCTAGTGAGGTAGGAGTCAACCAAGAGAGGGTGCAGCCCTGGAGGTCAGGTGAAGACAG TGTGTCAAAGAAGGATGTATGTTCAGGCTGCTGATGGGCCAATAGAGGAGGACTGAGCAT TGAGCATTACATGGAGCAAAAACACAGAGGTTCTTGGTGACCTTGACAAGAACAGATGCA GTGGAGAGATGGAGGCCAACGCCTGAGTGGGGTGGGTTCAAGGGAGAATGGGGGAGGGGA ACTAGAGGTAGCAAGTACAGATAACTCTTGCGATGAGTTTTGCTGCAAGTGAGAGCAAAT ACTGGGACTGAGGGGAAACCAGGAGATTAAGAGAATTTTTTTTTAATGATGAAAGAAATA ACAGTAGGTTTACCTGCGGATGGGGATGATCCAGTAAAAAAGGAAAACATGGCTGGGCAC GGTGACTCACACCTGTAATCCCAGCATTTTGGGAGGGCGAGGTGGATGGATCACCTGAGG TCAAGAGTTCAAGACCAACCTGGCCAGCATGGTGAAACCCCTTCTCTACTAAAAATACAA AAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAAGC AGGATAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCA CTCCAGCCTGGGCGACAAGAGTGAAACTCCCCCCGTCTCAAAAAAAAAGAAAGAAAAAGA AAAGGAAAACATGGGTGTCACAGAGGACCACAGAATGGCTTAATTTATGTCCTTGAGCAG GTGAGAAGGAGGAGACCTAGTGCACAAGTGGAAAGACAGATAGGGACCGAAGAATGAGCC AACCTGCTCTCGGCTAGCAGCTGCCCCATAGCAGTGCAGGCATGGGATAGAACTCAGCTC TCCTCAGTCCATGAGGCCTCCTAGCTCTAAAAGCCCGCACCCAAACGCCCTCACCTGGCT CCCAGCCCCTGCCCTACACCCCATACCCTGGGGTAGCCGGGCAAGCAGCACTTACATACC CATGCCCATACAGTGCCCATACATGCCCATACAGTGACCTCAGGCCTGGCGGAGGGCACT CCCCTCCGATTTCCACACTGCTGCCTCCCCAAGGGGATGGATGTTGGCTTGAGAGGGAAG GGGAGTCTGTGATCTGTGGGCAGGGGTTGCATCAGGGAATAAAGATCAGGTAACAGGACG CCTGTGGCGTGAGGCGTTCTGAGAATGGTAATGGGTTGGGTTTGGTTGCCTCTCATGTTC TGGGGGAACGTTGTCTGAACGTGAATCTCTGGTTCTAGGGCCAGCATCTCGCTCCGTGGA GCGCCTCAAGGAGATGATCAAGGCCGGGATGAACATTGCGCGACTCAACTTCTCCCACGG CTCCCACGAGGTGCGGGACGGGCCGCCGGGCAGTGGGTGGGGCAGGAGGATGCCTCGAGG TCCTGGCCACCTTCCCCTGAAACCCTCGCTCCGCTCCCTCCCCCAGTACCATGCTGAGTC CATCGCCAACGTCCGGGAGGCGGTGGAGAGCTTTGCAGGTTCCCCACTCAGCTACCGGCC CGTGGCCATCGCCCTGGACACCAAGGGACCGGAGATCCGCACTGGGATCCTGCAGGGGGT GAGCAGTGGGGCTGGGACTCGCTGGGCCAGGGCCGGAAAGGCGGCGCCTGTAGGGTTGGG CCCAGGCGTGGGCAGGGGCGGGTCCCGGACTCCGGGGCTCAGAACTCACATCTCCTCTGG CTCCCTCCTTAGGGTCCAGAGTCGGAAGTGGAGCTGGTGAAGGGCTCCCAGGTGCTGGTG ACTGTGGACCCCGCGTTCCGGACGCGGGGGAACGCGAACACCGTGTGGGTGGACTACCCC AATATTGTCCGGGTCGTGCCGGTGGGGGGCCGCATCTACATTGACGACGGGCTCATCTCC CTAGTGGTCCAGAAAATCGGTGCGGACGCGCCTCCCGCCCTGACCACATCCGTGCGCTGG GCACATTCCCTTCTCCTTGGCTCCCCCATCAGCCCTCAGACCGATCACACCTTCCCCTGG CCACGCGTTTTTGCCAGCCCGTCCCAGGAGTCCCCAGCGTGTAGACTCTGCGCTCACCCT GGGTTTGGGCTGGACTATGGGTGGGTCGTTTCTTCCACGGACGTCCATCTGTGCCTCTTC CGGGCGAAGCCCAGAACAAGGGCGGAGAGATGAGGAGGACATGGTTCCTGACCTCTTGCG GGTCCAAGCCCCAGTGTCCTCTCTGCTGCAACTGTGCCCCGTCCTCACCCCTGACCGCAG CTGGCTCTTTCCATGTCCGCAGGCCCAGAGGGACTGGTGACCCAAGTGGAGAACGGCGGC GTCCTGGGCAGCCGGAAGGGCGTGAACTTGCCAGGGGCCCAGGTGGACTTGCCCGGGCTG TCCGAGCAGGACGTCCGAGACCTGCGCTTCGGGGTGGAGCATGGGGTGGACATCGTCTTT GCCTCCTTTGTGCGGAAAGCCAGCGACGTGGCTGCCGTCAGGGCTGCTCTGGGTCCGGAA GGACACGGCATCAAGATCATCAGCAAAATTGAGAACCACGAAGGCGTGAAGAGGTGAGGC TTGGGCTCTGTTCCCCTTCGGCCCTGTCGCTATTCCCCATCACCTTTCTTCTCCTGCCTG CCTCTGCCTTGATTCTCCCAACCTCTCAGGTTTGATGAAATCCTGGAGGTGAGCGACGGC ATCATGGTGGCACGGGGGGACCTAGGCATCGAGATCCCAGCAGAGAAGGTTTTCCTGGCT CAGAAGATGATGATTGGGCGCTGCAACTTGGCGGGCAAGCCTGTTGTCTGTGCCACACAG GTCTGGAGTGAGGCCTTGAGGTTCGGCACTCTGTGGGTTTTAGGGACACCTGTGGGTGAA TACCCACACTGTAGGGGTTTATTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCACTCT GTCATCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCTTGGG TTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGTGGGGATTACAGGTGACCGCCGCCA TGCCAGGCTACTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGG TCTCGAACTCCTGACCTCAGGTGATCTACTCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGCACCCAGCCCACACTGTAGGTTTATAGCACATTTGGATGAAAAGT GTTTGATCCTCAAACGACAAAGTTAAATATACTTTGACCCCTATTTTCAGGGGTTGTGAC CAAACGACAAAGTTAAATATACTTTGACTCCTATTTTCAGGGGTTGTGACTGTGACCCTG GATTTTGGGACACTCTGAGAGTGTGGGTGTCAGAGAAGTAGCTTGGGCAGGGTCCCCAGT CACAGTGTGAGTCCTACAACTTTGACATCCACGCTGTCCCCCAGATGCTGGAGAGCATGA TTACCAAGCCCCGGCCAACGAGGGCAGAGACAAGCGATGTCGCCAATGCTGTGCTGGATG GGGCTGACTGCATCATGCTGTCAGGGGAGACTGCCAAGGGCAACTTCCCTGTGGAAGCGG TGAAGATGCAGCATGCGGTAGGAGCTCAGAATGAAAAGCAAATGGGCCAGGGAACCAAAT CCCTTCCATACCCCAGTGCCCCTTCCCAGACTAACATTCTGGCACCTGCAGATTGCCCGG GAGGCAGAGGCCGCAGTGTACCACCGGCAGCTGTTTGAGGAGCTACGTCGGGCAGCGCCA CTAAGCCGTGATCCCACTGAGGTCACCGCCATTGGTGCTGTGGAGGCTGCCTTCAAGTGC TGTGCTGCTGCCATCATTGTGCTGACCACAACTGGCCGGTGAGGGGGATATTGGGAATGT CCAGATGGAGCTTTGGGTCAGGGGTGGGCTGGGACGGGCCCCAGGCTTGGGTTTAGTCTG GTCACCAGGGGTGAAGAGTGTCCACCTGAGACAAGAGGAGAGGCAGCAATGACAGCTGGA GGCCAGGAGAGACAGAATGCCAGTGAGCTTCTGGGGGCTGGAAGGGGACAGCGGCATCAC TGGGCACATTGGCTTCAAGGCCATTTGGGCTTCTGGGGCTCAGAGGCAAGTCCATTCGGC CCACAGAGCCTACCAATACTGAGGTATTACAGAAGGGTCCAGTAGGTCTGAGTTTAAGTC TTTACTCAGAAATGTAGCTCTATTAGCCTGCTGTCTTTCCTCATGAACAGGACAAGGTAA TGATTTGTTCTTCATGGGGTTGGCAGGATTAACAGGAGATATTAAGTACTAGATAGTACT TAATATCTATATAGTAAATTAAGCACATAATGGACTTTCTCAAAAGGGTTTTATACTCTT GGGTTTTTGTTTGTTTGTTTTGTTTTGTTTTTCTTTTGAGAACGGCAGCTCGCTCTGTTG CTCAGGCTGGAGTAAAATGGTGCAATCTCAGCTCACCACAACCTTCACCTCCCAAGTTCA AGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGCATGCCACAACGCC CTGCATATTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTAGCCAGGCTGGTCT CAAACTCCTGACCTCAGGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGG CATGAGCCACTGTGCCTGGCCAGCTTTTATATTTCTTAAAGAGATTTCTCCTTATTATCT CATTTGATATATCTGTATTATCTCATATCTTTCTTGTGTGGTAGGGAGGGCAGGCATTCT TTCTTTTTTTTTTCTTAATGCAGAGATGGGGTCTCACTATGTTGCCTAGGCTGGTCTCCA GCTCCTGGGCTCAAACAATTCTCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCTCCCGGCCTGGGAGGCAGGCATTCTTACACTCATTTTACAGGTGAGAACA CCAAGGCCCAGAGAAGTATGATGACTTACCCAGGGTCACACAGCTTGTTAGTGACACCTG GAACTGGAACAAAGATTCTCCTTTCCTCGTTCACCACTTTCTTGCTGTTCTGGGCTGACC TTCTCTGCCTCCTCCAGCTCAGCCCAGCTTCTGTCTCGGTACCGACCTCGGGCAGCAGTC ATTGCTGTCACCCGCTCTGCCCAGGCTGCCCGCCAGGTCCACTTATGCCGAGGAGTCTTC CCCTTGCTTTACCGTGAACCTCCAGAAGCCATCTGGGCAGATGATGTAGATCGCCGGGTG CAATTTGGCATTGAAAGTGGTGAGCTACCTAGACCTTCCCTGCCACTCCTACCATTTGTA TCAGGAGCCCCCCAACCCAGCTTCCCATACCCACTCAAAGGGCCTTGCCTCTCTCCTGTG GTCCCAGGTTTTCCCTGTGAGAGTCACTAAGACTGAGATATCAGTCTGGCATATCACAAA TACCTCTTCCATCAGCATAGCCACACAGGCAGACGGCCGTGCTACTTAGCAACACACTCT GCCCTAGCCCACAGATACTCCTGCACCTTTTTTTTTTTTTGAGAGAGAGTCTTGCTCTGT CGCCAGGCTGGAGTGCAGGGGTACGATCTCGGCTCACTGCAATCTCTGCCTCCTGGGTTC AAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCGCCACCACGC CTGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT CAATGTCTTGACCACGTGATCCGCCCGCCTCGGACTCCCAGAGTGCTGGGATTACAGGCG TCAGCCACCGTGCTGGCATCTCTTACACCTTTAATATACTGCAGTGGTCACATTCCCTGC ATGCCACCCGTGGGACATACTTCACTGCCTCATTCCCTACAGGATGGCCTTGATGTGGTG AAAGGTGGTGGCTGGTTCTCGTTACAGGGCTGGCCTGGTCCCTCAATGACTAATTTTCTT TCTTTTCTTCTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTA TTATTTTGAGATGGAGTCTTGCTCTGTCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGC TCACTGCAACCTCTACCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGC TGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACAAG GTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCTGCCTT GGCTTCCCAAAGTGATGGGATTACAGGTGTGAGCCACCACACCTGTCCAATGATTTGTTT TCTTTCCCTCCCCCAGGAAAGCTCCGTGGCTTCCTCCGTGTTGGAGACCTGGTGATTGTG GTGACAGGCTGGCGACCTGGCTCCGGCTACACCAACATCATGCGGGTGCTAAGCATATCC TGAGACGCCCCTCCCTCCTCTGGCCCAGCCTACCCTTGTACCCCATCCCTTCCTCCCCAG TCTACGTTCTCCAGCCCACACCCCTCCAAAGCCCCACCTTTAAGTCCTCTCTTCTCTATT CCTGACCCTCCCTACCTGAGGCCTATCTGAGACTATAACTGTCATCTAGCCCCTTCGAGG TTGCCCCTTCCCCATCTCCATTTCACACAGGTCCTGAAAGTCTGTGTCCAATTATGCACT GGCCACCCAACAGCACCAATTGTACATTCCCTGCATCCAATCTGCTCAGCAGGCCCTAAG ATGCCTTGAGTCTTTAATCCCAGTTTGGCTGGTTAATTCCATAACCCCAGGCATCCCATC CCTTGGGGTGGGGGAGAGGGGAGACAGGGCAATCTTGTCCACAGTCTCCCATTCTCATAT GTAGCCCTCATGATAATCTGGGCATCTCGTGCCAGGGCAGGCTACCCCTTCATGGTGACT AACAGTTACATGAAAGTCCACGCTTTTGGGAAAACTGGGTGGGATGGATGCTGGGGAGAA GTGAGGGCTGGGCAGCTGATTTTGTCACTGTCTTCACAACCTCCGTGCTGGGCTTGTAGA CCACTGTCCTGGCTGCTCTCATGCCTGCCTGATACCCTGCTTGGTCAAATCCCCGGCTGC TTCCTTCTGCACCCAGAAATTCCTTCCCACTCATGTTGTTCCCACACACAAACCAAGAGC CAAAAATGAGTGTGTCTATTTTATATTTAAACCCAGCTGTTTGGAAGCAATTATAAAACT TCTCCCACACACCAAGAACCCCAGAACTCCCCACCCAGAAGGAAAGGAGACTTAGGGTCC TGGTCCCACAGTCTTTAATGCTGTAGAGTAGGAGAGGGGACAGGCAGAGTGAGGGTGGTA AAGGACTACTCTTGTCCCTGAGAAGGCAGAGGTGCTGGCTGGCCTGCCCTTCCCCAGGCT TGGATACCTTGGGCCTTTCCCTTATTCCTGCACCAACAGCAAACTCAGAAGGAAAAAACA AAACAAAACTCTAAAGGTAAACGCGGTCCTTCTCCCTCTCTCATGTGGCTCCTCCTGCCC CTACCTGGGAGAAGGTTCAAGTATTGCGCTGATGGGTTTGGGCAAGGACCACAGAGGCTG GCATGGAGAGGCCCTGCCTCCTCCTACTCCTCCTGTCTCCTTACCTGAAAAGGAGGGGAG GGATGGATAAAGGAATGGGTAAACAAAATTAATTGGTAACACATAAAGTTAGTAAATGAA TAAATACAATTAAATAAATGAA OMIM ID 609712