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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FKBP4 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2288 Official gene symbol FKBP4 Full name FK506 binding protein 4, 59kDa Aliases ,FKBP52,FKBP59,HBI,Hsp56,PPIase,p52, Gene summary The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq] Location Chromosome: 12   Locus: 12p13.33 Gene position 2904108 - 2914589  Map Viewer Gene orientation plus Gene size 10482 bp Gene sequence >FKBP4:2844108..2854589:Length=10482 AATCGCTCCCCGAGCCGCTCCTGACCCACCTACCCCAGCTCTCGCGCCGCGTGCAGAGGT GCTCAAGCCTCCTCGCGGTCCGCAGTCAGTGCCGCCGCGCCCGGCCTCCCGCACGCCCCG CAGGTAGCGCCCCCGCCCGCGGCCCAGAGTGCGCTCGCGCCGGCACCAGCTCCCGGATAA ACGGCGCGCCGCGCGGAGATGACAGCCGAGGAGATGAAGGCGACCGAGAGCGGGGCGCAG TCGGCGCCGCTGCCCATGGAGGGAGTGGACATCAGCCCCAAACAGGACGAAGGCGTGCTG AAGGTGAGGGGCGGCGGGGCCTGCGGAGGCGTCGGAACCCGGGGCCCCGCGGGCCGCCCT TCCGCCGCGCCCGGAGCCCGCGGCCGGGCACGGGTCGAGGCGGCCGCCTTTGCAGCCTCG CGGCCGTCCCGCCGGGGGCCGGTGGCATCGCCGTCCCGGACCGGGCTGCGTCGTTTAAGG CACCGAGGCCGGCCATGCGCTCGGCAGGGGGGCGGCCTAGGTGCGCGGGCCGAGGCCCCA GGCTCCCCAGCCGGCAGCGCCCGGGCCCGGGCAGGGGGTCGGGATTGCAGTGCCCACCCC GGCGCGCGCGGGGCGGCGGAGAGGGGCGGGGCGAGGCGACCGCCGCGGGCACCCGAGCCG CAGCCCGGGGCCAGGCCGGGCCTCCCACGCCACGCCGCCCCCGACCTCGCGGCCCCAGCG GAGCTGCCAGCCGCGGGCCGCCTCGTTGGTGGCGGTGCCAGGGCTCGCCCACCCGGGCGG TGGAACACGGGCCAGGACGGGGAGCGACTCCCCACAGTGCTTTCCTGGCCCTTCGGCCTT TGTGCGACGCAGGCGCGACAGGGTTCCGGCGCCCTCCCGGGGTCCCCTGCCGACGCCGGG ACCCAGCGAGGTCCCCACTCGCCGCGCGGCGCCCCCTCCCTCGGCCCCGGGGAGGCCGGG CGCGGGGCATGCCGGGAGCTGTAGTCCCCTCCCCCCTCCGCCGCCTCCCGGAGCCAGGGC TGCGGGGTGTGGGGCGGGGAGGAGGCGCTCTGCTGTGGAGCCTGCCGCCGAGTGACCGCT CGACTACAAATAGCCTGGGGAGCTGCGGGGAGGGCATCTTGACCTGGGCCAGGACAACCT GCCTTGGGTCGGAGCAGGTTCCAGGGAGAATCAGAGATGGTGAATTCCCAGCCTGCGTCT TATGCCTTCTCCCCATCCGCTGCTGCGTCCTCATCCTGGCTTCCCACCGCTGAGCTCCGC GTGTGCGGCACCCACCTCAGGGGGCCTTTACCTGGTCCAGAAGTGCATCTGTCTTTGCAC CAGATTATTGGGGACCTCAAGCGTCTGCTCCAGCGGCTCTCCTGTGGCATGTGACTTCCC CTTCTCGCTCCAGCGTCCTGCCGTTTTCTACGAGATTGTTATTCCAGGAAAGCTCATTTC CCCTTTGATCCATCATTCCTTCCCTTTTACCTTTCTACTCCTCAAAGCCCCTGTCTATTC TTCGTGGAAGCTTTCCCTTGGAGGGTAACCACACACCTACCAGGTGGCGCTAAAGAAGCC TTTACGTTTCTGGGAAATACTCCAGCCCTGGACTAACTACCAGAGGAATACTCAGCTCCC AAGTCAGAGTTTAAGGTCCCATGGAGAGCCTCCGGGTTCACCTATAACCTGGTTTCTTCC TTACCTGTTTTGAACTGTTTCTATTCTCTTCACTCATACTCCTCTCGCTCTCCTGTCTCC AAACCAGACCTTAGTCTGACGACCACTGGCATGAAGGAAGAAGGAGGAAGTGTGGCATAA ATACTTCCCCCTTTGCCGATTATAATAATAATCTATTATTCAACCTTTTACTGGTCTAAT CTTCCAACAACTGTAGGAGATAGGGATTATCATCACTGCTTTACAAATAAAGTGTGGAGA ATTTTAAAAACTTACCATACAGCGGAAACTTGAACTCAGATCTCTCAGCCTTTTGTCTCC TTTTTCAAACCAAGTCTTGCTGCACCTCAAGAAAGACAAGAAGGTTAGTTGACTCATAAG CCAAGCTGCTAGTAACTGAATCTGGAGGGACAAGTAGGCAGAGGAGGATGAACACAGAGA AGTCCCTTTATGTTCCCTCTGGAGGCTTGCAGGCAGTGCTGGTGCCCCTTTCTGCCCCAA ACCCTGGGGTACTCACTTTCTCCCCCTTCCTCCCAGGTCATCAAGAGAGAGGGCACAGGT ACAGAGATGCCCATGATTGGGGACCGAGTCTTTGTCCACTACACTGGCTGGCTATTAGAT GGCACAAAGTTTGACTCCAGTCTGGATCGCAAGGACAAATTCTCCTTTGACCTGGGAAAA GGTAGGCGTGGTCAGTGGGCTGGTAGGATAGGTTCGAGGTGGACACAAGCTGTCACAAGC AGAAACCATTTTCTCAGGACCAAGCTCAGGGAGGAATGGTTTATCACAGTCTGTTAACTC TTTCGGTCACTCTTTTTTTTTTTTTTCTACCGTTCTGTAACTATATTGATCTCTGTCTCC CCTTCTCCTCATCACCTCCCAACACCTTACTCCCCCTTCAAAGGTGGACTGTCTTGCATC TTAAACTCTTTTGTTCAGGGTCACGTGATCTTTTACAGTTCTTAGACCTGGTAGCACTTA ATACAACCAGGTACCTCACCTTCTGGTCCCATTTCTAAAGGATGTCCAGCTTCCCCATGA GTGTGGTGCAGTAACTCTTCAGGAGCACTGTTTGAGCCCAGAATCAGAACCCTGCTAAGG CGGTCCTGTTTGCTTCTGTACCTGCAGGGGAGGTCATCAAGGCTTGGGACATTGCCATAG CCACCATGAAGGTGGGGGAGGTGTGCCACATCACCTGCAAACCAGAATATGCCTACGGTT CAGCAGGCAGTCCTCCAAAGATTCCCCCCAATGCCACGCTTGTATTTGAGGTGAGTGTTT GGTCACTGAGATCCAGGCTAAGAGCCAGGCCTTATCTCAGCCCAATGCCTGGCTGCCCTC CAGCCCTTCCTGCTTCTTGGAGACAATGTAGCCAAGGCTGAGGGTCTGGCCTTATGGGAG GAGAAATGCAGAGGGCTCTGCTGCTGCTAGTAATGGAAGTAATAGAAGCTTCGGGTGGGA AGAGGCAGGCACAAGCCCCTCTCCAGACTCAAAGCATGGTCAGGGTTAAGGCATCTTTAT CTCCAGAGCGGTACCCAGAAGAATACTGAAAGGAGTCGGGATGTCAGAAACTATGTCCCG TTATAAATGGCAGTACAGAATATTGGTGCTCTAGAGACCAGAAGAGGGAGCAGTAGCTCC CCTGTGGGTCAAGGGCTGAGAAAAGGCTTCACTGAGGAGATAGAACTTGACATTGTTCAA TCTGAAAATGGTTGAGCCAATCCGTGGGCCCTTGAATACTGAGAAACTGCTGAGAGATGT TGGGTAATCATTTCTAATACCTACCAGGTTGGGCTTATCAGGTAGTGTGAATTAGGATTA TCTGGGACGCGTCCTGATATGTCCGTGTTAGTAGAGCAGGTAGCAAATAGATTGCTCTCC TCAGCTTAACTGAAATCTATGTAGTCTGCCCACCTCTACCAAAGTTGAGATTAGGGCAGC TCCCAAGAACTGAAAAAAAGTGCCACTCTACCCAACTCCTTGTGACTGCCCTTGTGGTCA GATCCGGCCTGGCAGTTAGTAGGGACTCTCTCGGATGAGAAAGATTGTGTTTCACTGCCC ATGAGTTAGCATGGGAAGGAATTGTGTCACATCTTGTCCCACAGGTGGAGTTGTTTGAGT TTAAGGGAGAAGATCTGACGGAAGAGGAAGATGGCGGAATCATTCGCAGAATACAGACTC GCGGTGAAGGCTATGCTAAGCCCAATGAGGGTGCTATCGTGGAGGGTGAGACAGTACAGT CTGGGCTTTCAATTCTCATTCTGATATTTAGGCCTTGTGTGGCTTTGGGCAAGACACTTC CGTTCTCCGAGCCTATCTTCTTGTCCATAAAATGAGGGGTTGGACCATATTCTCTTCATA TCACTCCAGATTTGAGAACACAGGAGAATCTTGGGATGATGGGGGTGATGCAGGGAGGCT GATGGCATCCTTCCTCAGTCACCTGCCCTCTTACAACTCTGGTACACTGCCTCTCTTTCA TGCCAGTTGCACTGGAAGGGTACTACAAGGACAAGCTCTTTGACCAGCGGGAGCTCCGCT TTGAGATTGGCGAGGGGGAGAACCTGGATCTGCCTTATGGTCTGGAGAGGGCCATTCAGC GCATGGAGAAAGGAGAACATTCCATCGTGTACCTCAAGCCCAGGTGAGGGGTGGGCACTT CGTAGGGTAGGCAGGCAGGCAAACCAAGATCAAAGATATAAAATGAATTGTAGAACCAGC TGTTTGTATCCTTTTTAACTCTGGCCACACCAAACATACACCATTATGATATCCTCAGTG TACTTAGAAGTATGGCCCAATTGTCTACATCTCCTTGGATCTAAGCCCAGTCTTTTCAGT CATAGTTGCTACAGATTCTCTCCTCTGCCATCAAGATTTTCCTCTCCCATTAATTCATTT CAGTCATTACTGAAACAGCTACTACATGCCAGGCACTGCTGAAAATTCCTATAGGGCTTC AGAGACTAATAGAACATTGTTTCTGCCTTCTAATTCTAGCTCATTGTTTAGTGAGGTGCT ATTTAAATTAGTAATCACACTGCTGCCTGGCTGTAAGTTATTAGAAGGGTATGAAGGATG CTGAGGGACCATCTGACAGTGTGAAGAGGCCAGGGAAGATTTGCCAAACATTTGAACCAA GTCTCAAGGGATGGGAAGGTACTTTCCAGGAAATGGACAGGAAGCCTTTTCAGCCTGGAG CAGGTTAAGTGTTGCCAAGATGATACATAGTGTTTTTCACCCCTCCAGCTATGCTTTTGG CAGTGTTGGGAAGGAAAAGTTCCAAATCCCACCAAATGCTGAGCTGAAATATGAATTACA CCTCAAGAGTTTTGAAAAGGTAAGTTTGCTCAGGGTCTTCCCATCTAAAGTCAAGTTCCA CCCTGTACGTGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCC AAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAG CGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGAA GAGTTGCTCTGAGCCTCCCCTTCCCTTGGTGACTGAGATCATTTTCTGCCAAGAAGTGGA CAGGTTGGCACCTGCCATCTTCACTTCATATATGTGAGCTTGCTGGCCTTGCCAGTGGGA AGGGTGGGAGCAGGAACCTCTTGTGGCCATGTGTCACTGATGTCTGCAGGGTATAAGAGC CTAGTACCACTGAAACTGTGCCAGGTGCCTGAGCCTCTCTCCCATTCCAGGAAGGTAAAT ACAAGCAAGCTTTACTACAGTATAAGAAGATCGTGTCTTGGCTGGAATATGAGTCTAGTT TTTCCAATGAGGAAGCACAGAAAGCACAGGCCCTTCGACTGGCCTCTCACCTCAACCTGG CCATGTGTCATCTGAAACTACAGGCCTTCTCTGCTGCCATTGAAAGCTGTAACAAGGTGA GGCCCCCTCAGAGGTCATGGAAGCAGCATTCACAGGCAGAGTTGGGTGAGCTGCCAGCAT GTCTGAAACTTCCCCTTGGTGACTAGGGCAGGGATAGCAGGGTGGATCAGTGGGAGCTCT GAGGTTACAGACCAAAGGCACGGATGCAAGTATTCATAGCAAGAACCTTAGCTTTGGTGG GAAGCAGTTGGCAAGAAGGAGGAGGACACGGAATGGGAAGAATCACATAAAGAGTTTTCT TCCACCTTGGTTCTTAGCCTCTCCGCTTACCTACTTGCTTTATTCTAAAGTGAATGTTAA TGTCTGAAGTCTTTATTTCATCCAAAGACCTGCTGTCTTCCCTCTCTGCCTGTTGGATTA AATGAGGTCCCTGGATTGTTCCATTTAATGCCTCAGGCCTTGTTCTTCCTGGGGTGCAGC CAGCCACTTGCATTCCTCCTCATCCTCCTGAGGGGTACCTTTGGAACCCAGTCTAGGCCA GATGAGCTACAAGCCCTGAGCTCCCACAATGTGGCTTCCTCTCTGCATTCTTTAGGCCCT AGAACTGGACAGCAACAACGAGAAGGGCCTCTTCCGCCGGGGAGAGGCCCACCTGGCCGT GAATGACTTTGAACTGGCACGGGCTGATTTCCAGAAGGTCCTGCAGCTCTACCCCAACAA CAAAGCCGCCAAGACCCAGCTGGCTGTGTGCCAGCAGCGGATCCGAAGGCAGCTTGCCCG GGAGAAGAAGCTCTATGCCAATATGTTTGAGAGGCTGGCTGAGGAGGAGAACAAGGTGAG GATTGGGGTGGGGAACAGTTGGAATAGCATCCCTCCACTTAACCTGGCTACTGTGGGCTC TTTGTGCCTTTGGTTGTCTGTGCCAATCCCGGAAACCAGAAGTTGCCTTTTCCCTGGAGC ATTAAGGAGCACGTGTTCCTGCTGTTGGGGCCAGTGTTCTGTGATCAGTGCGGGAAACCT ACCCACAAGCCCCAGAAGTTGGGTTGGTTGCCCTGAGTGTAATTCCCGATTTATGTTTTC TTGTGGGCCAGGCGCCGTGGCTCACACCTGCAATCCCAGCACTTTGCAGAGCCAAAGTGG GAGGATCACTTGAACCCAGTAGGTAGAGACCTCAGTGACTTAGGATGGCACCACTGCACC CCAGCCTGAGTGACAAAATGAAACCCCATCTCAAAAAAAGAAAAGCGAGATGCTTTTTGT GTGTGATTAAATAAATAATACACTTAGTTAAATTCAAACTGTACCAAAGTATACAGTCAA GTCTGCCTCCCCCACCAGAAGCAGCTGCCCCTTCAGGGTCTTGGATGGTCCAGTGTATTG CGTCAAGGCACAGGCAGACGTTCCTGTTGCTTCCTCCCTTTCCCCTAACACAGGCAACGT GCTCCACCTATGATTTGGCGCATACTATGCTTTTTTCACGTAATAGTAGCTGGAGGCTTA TTTTACATCCGTATTTAAAGAACTTTTACATTCTTTCTTAGGCTTACATTGTATTCCATT GTATGGATATGGCTTGTCTTAGTCAATCAGTCCCTTTTTAGTCTTCCAGTGGTTTTATTT TTTTTCTTTTTCTGAGACAGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCATG ATCTTGGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCC CGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTA CAGACGAAGTTTCATCATGTTGACCAGGCTCTCGAACTCCTGACTTTAGTGATCTGCCCA CCCCTGCCTCCCAAAGTGGTGGGATTACAGGTGTGAGCCACCACACCCAGCCAGTCTTAA ACAGTGTTCTAAACCAGCACTGTCCAGTAGAAATACAGTATCAACCACATGTAATTCAAA ATTTTCTGGTAACCATGTTAAAAAGGTGAAAAACAAATGGAATTAAATTTTAGTTGCATT TGTGTATTTTTCAAACCATCTTCAAAATCCAATGTATATTTTGCACTAAAAACACGAGTT TGAACTAGCCACTTACAGTAGTGGCTACCATACGGGACAGTGCTGCTTAGAACAGCATTG CAGTGAATAACCTCATGAGTTCATAATTTGTACATATACAAGTGTTCTGTTTTGTTTTGT TTGAGACAGTGTCTCTTGCCCTGCCGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGTTC ACTGTAACCTCTGCCTCCAGGGCTCAAGTGATCCTCTTGTCTCAGCCTCCCGAGTAGCTG GGACTACAGGTGCATGCCACCACGCCCAGGTAATTTTTGTAATTTTTGTTGAGATGAGGT TTCACCATGTTGCCCAGGCTGATCTCAAACTTCTGGGCTCAAGCAATCTGACCACCTCAG CCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCAGGCTTGGCCTATACAGGTATAGC TTTAGGACAGATGTAGGAGAATGGGTGTATCTGTGTAATTCTGCTGGAAATTAAGTGTGT GTTTTTTCACTTGGGAAGTCAGCCCGTTTGCTGTTCATCTTCCTTGCAGGCCAAGGCAGA GGCTTCCTCAGGAGACCATCCCACTGACACAGAGATGAAGGAGGAGCAGAAGAGCAACAC GGCAGGGAGCCAGTCTCAGGTGGAGACAGAAGCATAGCCCCTCTCCACCAGCCCTACTCC TGCGGCTGCCTGCCCCCCAGTCTCCCCACTCCACCCTGTTAGTTTTGTAAAAACTGAAGA ATTTTGAGTGAATTAGACCTTTATTTTTCTATCTGGTTGGATGGTGGCTTTAGGGGAAGG GGGAAAGGTGTAGGCTGGGGGATTGAGGTGGGGAATCATTTTAGCTGGTGTCAGCCCCTC TTCCCTTCCTCCATTGCACATGAACATATGTCCATCCATATATATTCATCAGAATGTTAA TTTATTTTGCTCCCTCTGTTAGGTCCATTTTCTAAGGGTAGAAGAGGCAAGTGGTAGGGA TGAGGTCTGATAAGAACCCAGGGTGGAGAGGGAGACTCCTGGGCAGCCGTTTTCCTCATC CTTTCCCTCTCCCAGTCCATTTCCAAATGTGGCCTCCATGTGGGTGCTAGGGACATGGGA AAAACCACTGCTATGCCATTTCTTCTCTCTGTTCCCTTCCTCACCCCCGACGGTGTGGCT GATGATGTCTTCTGGTGTCATGGTGACCACCCCCTGTTCCCTGTTCTGGTATTTCCCCTG TCAGTTTCCCCTCTCGGCCAGGTTGTGTCCCAAAATCCCCTCAGCCTCTTCTCTGCACGT TGCTGAAGGTCCAGGCTTGCCTCAAGTTCCATGCTTGAGCAATAAAGTGGAAACAATAAA ACCTGGGTGTCAGACAACCCTTTCTGTTCAGCCTTGGAGTGGTGGGTATGGGTGGGTACA TAATGGGTAGTAGCACAATCAAGGGGTCACCCACTTAGTTCCAGTTGAGCTTAAATAAGT GAGCATCTCATGTAGATGCCATAGTTGGGCAGGAAGCAGCCCCACCATGCATGGCTTCCT GAGCACTGCACAGGCTGCCGCTGGGATTTGTGTCTATGGCTTCGCCCAAGGTTCCCAGCA CTCCCTCCCTCCAGCAACCTGGCAGTTTTAGTGCCTCTGGTTTTCTTCCCTGACACTTAG GAAGACGAAAGTATAAAGATCTAGAAGACTGGGACACCATGCATGTTCATTTTGAAGTTG GAATTGGTCTTCTGCCTACCTCTGATCTGGCAGAGGTATCTGCATTTTGGTTTGTTAACA AGGTAAAACTCCTGGTGTCACTGACCTCCTCCTGTCAGATAACTTACATGATTAAGGTTA AGAGTAAAGCAGAGTGTTCACGTCCAGCTTCCTTCTCAGCCTTAACAGGAAAAGGCTTGT GCTTTTTTTCTAACTATGCTTTGACCCTTAACTCCTATGGCATGATGGGGCCCTGGGAGA AGCCAGGCAGCACAAGCCAGTCATGCTGAGCTGCCTCCAGATAATCCTGGCTCCAGGCCA GAGCCCGTGTCTGCCCTCATCCCTCTCTCCTACTGTGAGCTCTCCAGTCCTTTCCCAACA GCGATGTGGTTGTCTGCTTAGCCACATGCCTGTATAGTTCCTTCCAGAAGAAATGTATAA TGGTGGAAGATGTATTTCTGTGTGAAAATTTTCACCAAGTCATACAACACAGCTGATGCT GGAGCCAGGATTAAAATTGGGGTGTACAAGTCTCCCAGTGTGAGTATCCCTTGAGCCCAA GACACCAAGGATGCAGAGAACTGTGACTGTGCCACTGCACGCCAGCCTGGGCAAGAGAGT GAGACCATCTCTTTTTTAAAAAAGTCCCTGTGTAACTGCTTTCTTACTGGGCTTACCTCA CATCACAGCCCTGTGTTTGTGGTTTGTGTCTGGGTCCTCTTGGTATTTCAAAAGTAGTAG ATTCTTACGCCTGCAGCCAACAATAATCACTAACTCAAGCATTTATGGAGTAAGCCTAGC ACTGTACTGACAGCATCACATGAGTGAAACTGAATCCTTGCAACCATCCTACAAAGAAGG TATAACTTTAATAACCCTATTTACAGATAAGAAAACCAAGACTCAGAAGTTAAATGGAAA GGTGAGGTCTCTGAACTAATCCAGACTCTCCCATGAGGTTCCTTTGGCAAGTCCTGGGCT TCTGTCCTCATCTGCAAAATCGAAAGCATTCCTGAGGTTTCTTCCAGCTCTGCATCCTGT AGGATTCCAAGAATGTAAAACTGCATGTAACCGTGGAACATCTAGAGATAAGTCTTAGTT TATGTAACATTAAAACTGTCTAGTGAGGATGTTTTGTTAAAA OMIM ID 600611