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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for E2F1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 1869 Official gene symbol E2F1 Full name E2F transcription factor 1 Aliases ,E2F-1,RBAP1,RBBP3,RBP3, Gene summary The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq] Location Chromosome: 20   Locus: 20q11.2 Gene position 32274210 - 32263292  Map Viewer Gene orientation minus Gene size 10919 bp Gene sequence >E2F1:complement(2459384..2470302):Length=10919 TTGGCGCGTAAAAGTGGCCGGGACTTTGCAGGCAGCGGCGGCCGGGGGCGGAGCGGGATC GAGCCCTCGCCGAGGCCTGCCGCCATGGGCCCGCGCCGCCGCCGCCGCCTGTCACCCGGG CCGCGCGGGCCGTGAGCGTCATGGCCTTGGCCGGGGCCCCTGCGGGCGGCCCATGCGCGC CGGCGCTGGAGGCCCTGCTCGGGGCCGGCGCGCTGCGGCTGCTCGACTCCTCGCAGATCG TCATCATCTCCGCCGCGCAGGACGCCAGCGCCCCGCCGGCTCCCACCGGCCCCGCGGCGC CCGCCGCCGGCCCCTGCGACCCTGACCTGCTGCTCTTCGCCACACCGCAGGCGCCCCGGC CCACACCCAGTGCGCCGCGGCCCGCGCTCGGCCGCCCGCCGGTACGGACCCCAGGGACGC CGCGCCGACAGCGCCGCCTGTGCCCCCCGCGCAGACCCGGGAGGGCGCCGTGTTTGGCCT GGAGGCGGCAGGGGGCGGGGGAGGGGTTGACTGAGGCGCCCAGGCTGGGCGGTGCAGAGC CGGGGTTGGGCCTCCGGGCCCCGCCCTGGGGTGCGGGGTGACCTCGGGCCGGTCCCTGTT TGCTGCTCTGTGCTCTGCGCCTCAGCTTCCTCACCGGAGCCTCCCCAGCGTCGGACTCAG TGATAATAATAGCCCACGTGTATTCAACTGGCGTTTACTGCATGCCAGGCCTTTGGGCGA CTTCAAGCCAGCTAAAACTCACAACCCCGCTGTGAGCTGTGTTGTCACTGTGCCCATCTG ACGGAGGAGGAACTGAGGCCCAGAGAGGGAAAGTGACTTGCCCCTGGTCACACGGCTGCA GGTGGTGGGGCTGGGATTTGAACTGAGGCCTGCTGGCTTCAGCTCAGAATTTGCATCTCG GTAGTGAGCACAGCTGCTAGGGGAAGTGAAGGCGGGGCGGAGGAAAGTCCTGGGGCCTAA CCGTTGGTGAGCCATTGAGGAGACCCTCCTTCCTGCCTCGATGCTGACTGCCAGGTGCAG GCCTGGCCGGCCAGGCCTCTGGGGACAGCCCTCCTGGCTGGGAGGCCTTCTCTGCAGGGG CGGGGCAGCTGGACCAGCTGCTGATCCCCTCCCTCTGCCTGTCCTTCCATCTGCCACCCT CCACCCTCCCAGGCCCTGGTTGCCATGGAACCTCATTAATCAGGCAGGCCGACCCCTGAG TCTCTGTAGAAGGACTAGGTGGGCTGGGCCTCTGGGAGCTGGAGAGGAGGCCCCCAGTGC CAGGAGAGAAAATGTCTCAGGGAGATCCTTTAATAAAGCCCTCCCTGATCGCTGAGCTCA AGACGAATTCAGACTGGAGGGCCCAGAAGAGGCGGCTGAATTCCAGTGGGAGAAGGGATT GGAGGCGTAGAAGCCTGGAGCTGGGAACTGTGGGGCACAGGGCAGGGTGTGGAGACCAGT TTGACTGGCGCAGCCTATGGGTGAAGGTGGGGCTCTGGTGTGCAGGCGGGGTCTGGCCAG GCAGGATGGGGTCTCAGCAGGGAACTTGGAGCAAGTGGGAGGGGTGAGGCAGGACTCAGG ACAAGGAGGTAGAAGCTGCCTAACTGCTGATGGGGGTGTGGGTGGCAGCTGGTCCCTGAG GCATCCTGAGGAGGCTCCCCCAACCCCCTTGGCCCCATGCCCAGTGCTGCCTTCCGGAAT CACCACAATGCTAATAATAATAACAATAGCAGCCACCATTGTTTTGAGGATGTCTTGTGT GCCAGGCTCTGTGCCAAGCGCTTTACTTAATTAACTCATTTAACCCCATCAGCAGCAGTC CCTTTTTACAGATTGGGAAGCTGAGGCCTAGAGATGTTAGAATCTTCCCATGTCATTCTG CTCTTGAGTGGGGAGAGCAGTCTGCGTTTCCTCTGAGGTTGACCTCTGGGATGCCTTGCT TTCTGGGGATGCTGATACAGGTTGAAGAAAGGGCAAGAAGGGCTTTTAGGGGCCCTCCCT CTTAATGAGTGGGTGGGAGGGGGTTGTACCAGGGGTGGGCCAGGTGGCCTGTCTCCTGTA CTCCAGGGGCCTGTTCCTGTGGGTACCACTTGGGACCTGGGCAAGCATCTTCCATTCAGC TGTGTGACAAGCATTATAGAAGGCTCAGGTCTGCGGAAATCTAACAACCTGAGGGTCTTG TCCTCAAAGATCTGAACAGGATTATGGGTTCTAGGATCAAAGGGAGGGACAGGGGCAAAG AAAAATGCCCTCCACTCCACCTGTCAGGGGCAGGCTCATTGGCCTGGGCATTCCATTCAT TCAACAGTTGTTGAGTTAGTGAATGCCCAGGAGGCACTAGGCCCAGAGACAAGGAGCCCT GGCCCCCAGTGTACTTAAGGGCCAGGAGGCTGGCACCATTCTGGAACTGAAGTCCAGAAA GTCCACAGGTTTGGCTTTTGGCCTCTCTGCACTGGCATTTGTCTGGCACAGTCCTTGAAA TAAGCTACAGGCTTAGCTTCTATACCAGCAGGCATTCTGTATACAAGGCTCTGCAATTCA GCCATTCCTCTTGGCCCTGCCTGTCCACTTCCACAAACTCAAGTATTATAACTATAATAC ATGTTTAATGTAGAAAACTTAACTTTTTTATTTATTTATTTATTTTTTTTTTGGAGACAG GGTCTCATTCTGTTACCCAGGCTGGAGTGCAGTGGCGTGATTGCGGCTCACTGCAACCTC TGCCTCCCAAGTTCAAGCTATTCTGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCG TGTACCACCATGCCCAGCCAATTTTTGTATTTTTAGTAGAGAGAGGGTCTTGCCATGTTG CCCAGGCTGGTCTTGAACTCCTGAGTTCAGACAATCTGACTGTCTCAGCCTCTCAAAGTG CTGGGATTACAGGTGTGAGTCACCATGCCCAGCTGAAAACTTAACTCTTAACTCTTTTTT TTTTTTTTTTTTTTGAGATGAAGTCTCGCTCTGTCACCTAGGTTGGAGTACAGTGGCGCC ATCTCGGCTCACCGCAACCTCTACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGACGTGCACCACCATACCCGGCTAATTTTTGTATTTTTGGTA GAGATGAGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTG CCCGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAAA ACTTAACTCTTAAGAAACTAGAAAGTTGACGGCAGGATCCCAGCCCTATTCATTTTTTTC CTTTTTTTCCCTAAGGCTATTTTTGTTTGTGGTGGTTGTGACAGTTTTTGTTTTTTAAAG TTTTAAAAATTGTAGTTTTTCCTGTATCATTCACACCATTCAGATATGGCACTGGTCTCC CACAGTCCTTCCAGAGGCTGCCCCGAAATGTATTCTATAATAATATAAACTGAACCAGAG AAAAGTTTCATGAGCTTTTTAATCCAAAAGGGATCATATAAATATATCGCCCTGTGACAG TGTTTTGCTTGTCTGTATGTGTGAGGGGATTCTTGTCAACCTGCCTCGGTCCTTGACAGC TGCGTGGTGTTCAAGGGGCTAAACAAAGCACAGCTTTCGTGACCCCCTTCATGGATGGGT GTTCGAGTCATCCAGATTTTTTCAGCAGTGAATGTCTTCACCCCTGCGTTTCGGGGCCCC TCTGCCAGTGTTTATCTAGGGAGAAGTGGCAGAAATGGCATCCACTCAAGCCTTTGTTTT AGGGCGTGGCACTGACCTGCCTTCAGGGGTGGACAAGGGTGGGGATCCCAGGGAGAAGGC AAGGGGTGCAGATGGCAGAAGCATGCTAGGGTTTGGGCCCCAGGGGCGAGTATGGAGGGG GATACATTCTGGCTGGGTTCTGGGGAGGTGGGGCACGTGGCGGGTATGAGTGTGGGCTCT GTACCAGCCAACTAGGGTGCAAGTCCTGGGTCCACCTCTCACTGTGTGGCCTCTCTCAGG TGGAGGCCATCATAGCACCTGCCAAAAGGTGGCCGGAGGGTTGCAGGGGAAGCAGTTGAG TACACAGTGCTTAGAGCACAACAGCTCTTCTTTCCCCTGGGTGCCTTCAAAAGTCAGTGA ATGTGCACAAGAGGGAGTGGTTCATCAGCATGGGGGGGGTTCATTCAGCAAACATTTGTT GATGCCAGGCTCCATGGCAGACACTATAGATTCTCAAGTGATTCAGACACCTCTGAGGGT GAGATAGATACATCTGCAGAAATGTGTAGGGAGAGACAGAATGTGGCAAAAGGTTGGGTT TGAGGCAGTTCAGAGGGAGAAGAGGTGACACCTCCTAGCTGATGCGTAAGGTTTCTGCCC ACAGAGGTAGAGGGAGCAGGCGTGAAGTGGGGAGGGTGGGAGGGATGCAAGGGCAGTCTA GATTTCTGGGAAAACGTGACTCGGGTTCCTCTAGAGAAGCAGTGGCAGATGAGAGTACAA AGGCAATGGGGAGCTGGAGGAAGGCCTTAAGCAGGGGCGGCGGCATGGTAAGGTTTGTAG GAGGACTGGCTGCAGCAGAGGCAGGGAGACCAGTGTGGAGTCTGCTCAGCAGCCCACTGG GAAGGTGGTGATCGCCGTGGTGATGAGCAGTTCTTGGTAGCTGCATGTGAGGAGGGTGAC AGGTCAGGAACTCTAGCTCAGGAAACCCTGTGGATGGTGGAGGGGAAGATCAGTCTGGTT TTGGTCCGGGTACTTTTGAGCAGCCTGTGAGACCTCCAGGACAGTCCCAATCCTGGAGTG TCTGAACTAAGCCAGAGTGCTTAGAGCTTGGGTTCTTCCTCAGACCGTCTTGGGTACAAA TCCTGACTCTACCACTTCCTGGGCCTCCCTGGGCTTTAGTTGCCTTATCTGGAAAATGGG GCCATTTTTATACAGCCAGTCCGTTGAATGGAATGAACTAATGGATGCAAGGAACTTGAT GAGCACCAGCTGCTACCATGCGTATAGATTAGTCAAAAACCAGAGAGAAGGTGATTTAGC CAAGGGACCTATGTAATCAGTGGCTTAGCTGGGCATGGTGGCTGACTAGTCCCAGCACGA CTACAGTGAAGGCTGAGATGGGAGAATTGCTTGAGCCTAGGAGTTTGAGACCAGTCTGGG CAACATAGGGAGACCCCATCTCTACGAGAAATAGAAAAGTTAGCTGGTCTTGGAGGGATG CGCCTGTGGTCCCAGCTGTTTGGAAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAAGT CTAGGCTGCAGAGAGTTGTGATCATACCACTGCACTCCAGCATAGTCAACAGAGCGATAC CCTGTCTAAAAAAGAAAAAAAAATAGTGCCTTAAAACAACAAACATTTATTATATAGTTT TTGTGGGTCAGGAATTCAGGGAAGACTTATCCAGCTCTGGCTTGGGGTCTCTGGAGATTC AGCCAGTGTTTGGGTTCTGGCTGCTAACAGAAGTTGTGACTAAGTGTTGCTGTTGGGAGG AGGCCATGGTTTCTTGCCCATCATTAGGGCTACTTGAGTGCCCATATGATATGGCAGAGT AAGTGACCCAATACAGAGCAAGGAGGAAGCTCCAGCGCCTCTGACCCAGTCTCAAAAGTG ACAGGCCATCCCTTCCACCACATTCCATTCATTCATCCCCAGAAGCAAGTTACCAGGTCT GGCTCATAAGGGGAGAATTAGGCTATATCTTTTGAAGGAGAAGGATCAGAAAGTTTGCGG ATGTGTTTTAAATCCACCGCTAGACCCCAGAGAAGTGGTGAAAATGGAATGTCCTGTGTG GTAGGACTGTGACTCTCAGGCTATGTCCCCTCTGATCTCCCTCAGTCACACACTCAGGCA TCCTGCTAGAGAAACTGAGGCGAGGGTAGCCCAGAGGCACCCAGCCTTAAGCCAGGTCTC TTCTGGCCTCACTCCTGGTTACTGGGCATCCTCCCGTTTTCGCCACAGGTGAAGCGGAGG CTGGACCTGGAAACTGACCATCAGTACCTGGCCGAGAGCAGTGGGCCAGCTCGGGGCAGA GGCCGCCATCCAGGAAAAGGTACCTATGGAGCTTGGGCTGGGCAGACCCCCTGTGACCAG GCCCAGGTTAGGGATGTGAACAGACAAACATGCTTGCAAGCTAACGTCTGGCTTGTCGGG CTTGAGCCAGGCCTCTGAGGACCCTGATGGGCAGTTGGAGTGGCCACCTGGCTTGGTTTC TCCAGGCCCTGAGGGGTGAGGAGTTCCCCAGCCAGAAGAAGAATGCTGTGGTTGGCCTCG CCAAGGGGAAGGAGCTGGCTGTCCCCCAGCCCCCATCATCCTGCTGCCCTGCACTGCCAG AGTGGCAGGCCTGGCTGGAGGTGGGGGTGGATGCTGAAGGGCCCTGTCTTGCCTGACCAC ACCCCCACAGGTGTGAAATCCCCGGGGGAGAAGTCACGCTATGAGACCTCACTGAATCTG ACCACCAAGCGCTTCCTGGAGCTGCTGAGCCACTCGGCTGACGGTGTCGTCGACCTGAAC TGGGCTGCCGAGGTGCTGAAGGTGCAGAAGCGGCGCATCTATGACATCACCAACGTCCTT GAGGGCATCCAGCTCATTGCCAAGAAGTCCAAGAACCACATCCAGTGGCTGTAGGTACCG GCCACACAGGAGGGCAGGCACACCTGCCCATGCCAGCCTGGAGGAGCTGGTAGTAATACC CACTGTGGCTGCCTGCATCCCCATCTTATAGCTGGGGAAACGGGCTCAGAGAGGAGAGGT AGCTTCCCTGAGATGATAGATGGTAAAAAGCACACAAATCTTACATATCCACCTCAGTTG CAGCTTTACTTTTTTCTTTTTTAGATGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAG TGGTGTAATCTCAGCTCACTGTAACCTCTACCTCCCAGGTTCAGGTGCTTCTCCTGCCTC AGCCTCCTGAATAGCTGGGGATACAGGCGCCTGCCACCATGCCCAGCTACTTTTTGTATT TGTAGTAGAAATGGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGATCTCAGG TGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCC GCGCAGCTTTATATATTTATTCATCTGGGTTGCCACCATTCAGATCAAGATAAGAGCATT TTCAACACCCTAGAAGGTTCTCTTGTGCCCCTTTCCAGTCATTGCCAACCCCTCACACCG CCAGGTCACCACTATCCTGGCTTCTCATGCCCTCGGTGAGATCTGTCTGGCATAGATATT TTATTCTTGTTTTATTTTCCCCCTCTCGCCTTCGCGCCAGTCATCATGCTACTACCCTTT CTTTGATACACCTGCCGTTTCATTTTTTGGTAGATCGTTCCATTCTGCATCTTTTGTGGT TTTTTGGGTGGAGGGGGGTGGTTTGAGACAGGGTGTTGCTCTGTCGCCCAGGCTGGAGTA TGGAGGCACAAATACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCTCCGTACCTGT AGCTAGGACTACAAGTACATGCCACCATGTCTGGCTAATGTCTTTGATTTTGTGTAGAGG CAGAGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGGCTCAAGCAATCCTCTG GCCTCAGCCCCCCAAAGTGCTGGGATTATAGGTATAAGCCACCAAGCCCAGCCTTTTTTT TTTTTTCATTTGACAGCATGTCTTGGAAATGCATGTGTGTGTGCATGTGTAATATTTCGT GGCATGTCAGTCCCATCATTTGTTTATCCCGCCCTGGTTGAGGGACATGTAGGTGTTTAT ATTCGGGCCAGACTTCAAGCCCATGACACTCTGATTTGGAGCCCAGCTGAGGAGCCAGAC CCAGACAGAAGCAAGGGCTTGCCTAGGCCTCACAGAACAGAGGCAACAGCAGACTCTGTC CTGAGGCCCAGGGCTCCTGGCCAGAGGGGCCAATCGCTGTTAACCCTACCCTCCCTGGTG CCTCCCCACAGGGGCAGCCACACCACAGTGGGCGTCGGCGGACGGCTTGAGGGGTTGACC CAGGACCTCCGACAGCTGCAGGAGAGCGAGCAGCAGCTGGACCACCTGATGAATATCTGT ACTACGCAGCTGCGCCTGCTCTCCGAGGACACTGACAGCCAGCGATATCCTTGGATTGGC CGTAGGGTGTGGAAGGCAGGCTTAGCAGGCAGGGGCTCCACCCAAGTGGGACTAGAGAGG CTTGGATTTAAGAGAGAGCTCTGATTTTGGTTGCAAGTCCTGGCTCAGCATTTTCTCACT GTTGTGACACTGGATAAATTGCTTAACCTCTTGGCCTCAGTTTTATCTATAAAAGGGGAA TAATAATATCCAATTCTGAAATTGTACAGATTAAAAAAGAAAAGTGGCTAGGTGCGGTGG TTCATGCCTGTAATCCTAGTGCTTCAAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGG AGTTTGAGGCTGCAGTGAGCTCTGGTTGAGCCACATCACTCCAGCCTGGGTGACATAGCG AGACCCTGCCTCTAAAAAATAAATTCCCAGCACCAGGCCTGGAGTTGTGTTGAACATTTT ACATGGAATCGTTCCCGGTAGCCATTATTACCTTGGGATTCAATGGGTAGAGTGATTTCA TTATACAGATGTGGAACTTGAAACTCAGGCGTGAGGTAGGTTTTGAGTGGGTAGGAGGTT GGGAGGACAGGAGTGACTAGGCAGGTGTGAGCCCTGCCTTGTGAGCTGTTGGAGTGAGTG ACCCCCTAGAAGTCAAAGGTCATGTGGTCCTTGACTCTGCCAACCCTGGCCTACGTGACG TGTCAGGACCTTCGTAGCATTGCAGACCCTGCAGAGCAGATGGTTATGGTGATCAAAGCC CCTCCTGAGACCCAGCTCCAAGCCGTGGACTCTTCGGAGGTGAGATCTGGGAACTCCGGG CCCAACTGGGCTGGGCTGGGCTGGGCTGGTGGTCACCTGGGCCTCAGTTTACCCTGCCTG CTGCTTCCACCCAGAACTTTCAGATCTCCCTTAAGAGCAAACAAGGCCCGATCGATGTTT TCCTGTGCCCTGAGGAGACCGTAGGTGGGATCAGCCCTGGGAAGACCCCATCCCAGGAGG TCACTTCTGAGGAGGAGAACAGGGCCACTGACTCTGCCACCATAGTGTCACCACCACCAT CATCTCCCCCCTCATCCCTCACCACAGATCCCAGCCAGTCTCTACTCAGCCTGGAGCAAG GTGGGTGATGGGTAGGTGGGTGGGGTGGGGCAGGGCCCCTCTTCTGGGGGGTGGGCAGGC ACGACAGCCCCTGCCTTCCTCCCTGCTGGGGCATCCCCGGCCTGTGATGCTCCCCGTCTC CCCAGAACCGCTGTTGTCCCGGATGGGCAGCCTGCGGGCTCCCGTGGACGAGGACCGCCT GTCCCCGCTGGTGGCGGCCGACTCGCTCCTGGAGCATGTGCGGGAGGACTTCTCCGGCCT CCTCCCTGAGGAGTTCATCAGCCTTTCCCCACCCCACGAGGCCCTCGACTACCACTTCGG CCTCGAGGAGGGCGAGGGCATCAGAGACCTCTTCGACTGTGACTTTGGGGACCTCACCCC CCTGGATTTCTGACAGGGCTTGGAGGGACCAGGGTTTCCAGAGATGCTCACCTTGTCTCT GCAGCCCTGGAGCCCCCTGTCCCTGGCCGTCCTCCCAGCCTGTTTGGAAACATTTAATTT ATACCCCTCTCCTCTGTCTCCAGAAGCTTCTAGCTCTGGGGTCTGGCTACCGCTAGGAGG CTGAGCAAGCCAGGAAGGGAAGGAGTCTGTGTGGTGTGTATGTGCATGCAGCCTACACCC ACACGTGTGTACCGGGGGTGAATGTGTGTGAGCATGTGTGTGTGCATGTACCGGGGAATG AAGGTGAACATACACCTCTGTGTGTGCACTGCAGACACGCCCCAGTGTGTCCACATGTGT GTGCATGAGTCCATGTGTGCGCGTGGGGGGGCTCTAACTGCACTTTCGGCCCTTTTGCTC TGGGGGTCCCACAAGGCCCAGGGCAGTGCCTGCTCCCAGAATCTGGTGCTCTGACCAGGC CAGGTGGGGAGGCTTTGGCTGGCTGGGCGTGTAGGACGGTGAGAGCACTTCTGTCTTAAA GGTTTTTTCTGATTGAAGCTTTAATGGAGCGTTATTTATTTATCGAGGCCTCTTTGGTGA GCCTGGGGAATCAGCAAAGGGGAGGAGGGGTGTGGGGTTGATACCCCAACTCCCTCTACC CTTGAGCAAGGGCAGGGGTCCCTGAGCTGTTCTTCTGCCCCATACTGAAGGAACTGAGGC CTGGGTGATTTATTTATTGGGAAAGTGAGGGAGGGAGACAGACTGACTGACAGCCATGGG TGGTCAGATGGTGGGGTGGGCCCTCTCCAGGGGGCCAGTTCAGGGCCCCAGCTGCCCCCC AGGATGGATATGAGATGGGAGAGGTGAGTGGGGGACCTTCACTGATGTGGGCAGGAGGGG TGGTGAAGGCCTCCCCCAGCCCAGACCCTGTGGTCCCTCCTGCAGTGTCTGAAGCGCCTG CCTCCCCACTGCTCTGCCCCACCCTCCAATCTGCACTTTGATTTGCTTCCTAACAGCTCT GTTCCCTCCTGCTTTGGTTTTAATAAATATTTTGATGACGTTTGGGCCGGGTTTTGGGAC TCTGTTGGGAACATTTCGGGGCGGGAGAGGCCAAGGTTGCTGGGGAAATGCCCATTCTCC ACTTCCCTTCTCCCTGTCCGTGCCCGATTTGATTTGAGCCTCATAACTCGAAGAAAGGTC AGCTTCCTCGCTGTTTTGGTCCTAACTCAAAAGCAGATCCAGTAAAGGTTTTTGTTGTA OMIM ID 189971