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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 7276 Official gene symbol TTR Full name transthyretin Aliases ,HsT2651,PALB,TBPA, Gene summary This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq] Location Chromosome: 18   Locus: 18q12.1 Gene position 29171730 - 29178987  Map Viewer Gene orientation plus Gene size 7258 bp Gene sequence >TTR:10660832..10668089:Length=7258 GTTGACTAAGTCAATAATCAGAATCAGCAGGTTTGCAGTCAGATTGGCAGGGATAAGCAG CCTAGCTCAGGAGAAGTGAGTATAAAAGCCCCAGGCTGGGAGCAGCCATCACAGAAGTCC ACTCATTCTTGGCAGGATGGCTTCTCATCGTCTGCTCCTCCTCTGCCTTGCTGGACTGGT ATTTGTGTCTGAGGCTGGCCCTACGGTGAGTGTTTCTGTGACATCCCATTCCTACATTTA AGATTCACGCTAAATGAAGTAGAAGTGACTCCTTCCAGCTTTGCCAACCAGCTTTTATTA CTAGGGCAAGGGTACCCAGCATCTATTTTTAATATAATTAATTCAAACTTCAAAAAGAAT GAAGTTCCACTGAGCTTACTGAGCTGGGACTTGAACTCTGAGCATTCTACCTCATTGCTT TGGTGCATTAGGTTTGTAATATCTGGTACCTCTGTTTCCTCAGATAGATGATAGAAATAA AGATATGATATTAAGGAAGCTGTTAATACTGAATTTTCAGAAAAGTATCCCTCCATAAAA TGTATTTGGGGGACAAACTGCAGGAGATTATATTCTGGCCCTATAGTTATTCAAAACGTA TTTATTGATTAATCTTTAAAAGGCTTAGTGAACAATATTCTAGTCAGATATCTAATTCTT AAATCCTCTAGAAGAATTAACTAATACTATAAAATGGGTCTGGATGTAGTTCTGACATTA TTTTATAACAACTGGTAAGAGGGAGTGACTATAGCAACAACTAAAATGATCTCAGGAAAA CCTGTTTGGCCCTATGTATGGTACATTACATCTTTTCAGTAATTCCACTCAAATGGAGAC TTTTAACAAAGCAACTGTTCTCAGGGGACCTATTTTCTCCCTTAAAATTCATTATACACA TCCCTGGTTGATAGCAGTGTGTCTGGAGGCAGAAACCATTCTTGCTTTGGAAACAATTAC GTCTGTGTTATACTGAGTAGGGAAGCTCATTAATTGTCGACACTTACGTTCCTGATAATG GGATCAGTGTGTAATTCTTGTTTCGCTCCAGATTTCTAATACCACAAAGAATAAATCCTT TCACTCTGATCAATTTTGTTAACTTCTCACGTGTCTTCTCTACACCCAGGGCACCGGTGA ATCCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTGTCCGAGGCAGTCCTGCCATCAA TGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGG GTAAGTTGCCAAAGAACCCTCCCACAGGACTTGGTTTTATCTTCCCGTTTGCCCCTCACT TGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGG CAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTG ACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCC TCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGA AAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATA TGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGT CCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAG GAATTCAGAAATATTATTAACCAGGCATCTGTCTGTAGTTAATATGGATCACCCAAAACC CAAGGCTTTTGCCTAATGAACACTTTGGGGCACCTACTGTGTGCAAGGCTGGGGGCTGTC AAGCTCAGTTAAAAAAAAAAAGATAGAAGAGATGGATCCATGAGGCAAAGTACAGCCCCA GGCTAATCCCACGATCACCCGACTTCATGTCCAAGAGTGGCTTCTCACCTTCATTAGCCA GTTCACAATTTTCATGGAGTTTTTCTACCTGCACTAGCAAAAACTTCAAGGAAAATACAT ATTAATAAATCTAAGCAAAGTGACCAGAAGACAGAGCAATCAGGAGACCCTTTGCATCCA GCAGAAGAGGAACTGCTAAGTATTTACATCTCCACAGAGAAGAATTTCTGTTGGGTTTTA ATTGAACCCCAAGAACCACATGATTCTTCAACCATTATTGGGAAGATCATTTTCTTAGGT CTGGTTTTAACTGGCTTTTTATTTGGGAATTCATTTATGTTTATATAAAATGCCAAGCAT AACATGAAAAGTGGTTACAGGACTATTCTAAGGGAGAGACAGAATGGACACCAAAAATAT TCCAATGTTCTTGTGAATCTTTTCCTTGCACCAGGACAAAAAAAAAAAGAAGTGAAAAGA AGAAAGGAGGAGGGGCATAATCAGAGTCAGTAAAGACAACTGCTATTTTTATCTATCGTA GCTGTTGCAGTCAAATGGGAAGCAATTTCCAACATTCAACTATGGAGCTGGTACTTACAT GGAAATAGAAGTTGCCTAGTGTTTGTTGCTGGCAAAGAGTTATCAGAGAGGTTAAATATA TAAAAGGGAAAAGAGTCAGATACAGGTTCTTCTTCCTACTTTAGGTTTTCCACTGTGTGT GCAAATGATACTCCCTGGTGGTGTGCAGATGCCTCAAAGCTATCCTCACACCACAAGGGA GAGGAGCGAGATCCTGCTGTCCTGGAGAAGTGCAGAGTTAGAACAGCTGTGGCCACTTGC ATCCAATCATCAATCTTGAATCACAGGGACTCTTTCTTAAGTAAACATTATACCTGGCCG GGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAAGTGGGCATATCATC TGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACTCCGTCTTTATGAAAAA TACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAATCCCAGCTAATTGGGAGGCTGA GGCTGGAGAATCCCTTGAATCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATT GCACTCCAGCCTGGGTGACAAGAGTAAAACTCTGTCTCAAAAAAAAAAAATTATACCTAC ATTCTCTTCTTATCAGAGAAAAAAATCTACAGTGAGCTTTTCAAAAAGTTTTTACAAACT TTTTGCCATTTAATTTCAGTTAGGAGTTTTCCCTACTTCTGACTTAGTTGAGGGGAAATG TTCATAACATGTTTATAACATGTTTATGTGTGTTAGTTGGTGGGGGTGTATTACTTTGCC ATGCCATTTGTTTCCTCCATGCGTAACTTAATCCAGACTTTCACACCTTATAGGAAAACC AGTGAGTCTGGAGAGCTGCATGGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATAC AAAGTGGAAATAGACACCAAATCTTACTGGAAGGCACTTGGCATCTCCCCATTCCATGAG CATGCAGAGGTGAGTATACAGACCTTCGAGGGTTGTTTTGGTTTTGGTTTTTGCTTTTGG CATTCCAGGAAATGCACAGTTTTACTCAGTGTACCACAGAAATGTCCTAAGGAAGGTGAT GAATGACCAAAGGTTCCCTTTCCTATTATACAAGAAAAAATTCACAACACTCTGAGAAGC AAATTTCTTTTTGACTTTGATGAAAATCCACTTAGTAACATGACTTGAACTTACATGAAA CTACTCATAGTCTATTCATTCCACTTTATATGAATATTGATGTATCTGCTGTTGAAATAA TAGTTTATGAGGCAGCCCTCCAGACCCCACGTAGAGTGTATGTAACAAGAGATGCACCAT TTTATTTCTCGAAAACCCGTAACATTCTTCATTCCAAAACACATCTGGCTTCTCGGAGGT CTGGACAAGTGATTCTTGGCAACACATACCTATAGAGACAATAAAATCAAAGTAATAATG GCAACACAATAGATAACATTTACCAAGCATACACCATGTGGCAGACACAATTATAAGTGT TTTCCATATTTAACCTACTTAATCCTCAGGAATAAGCCACTGAGGTCAGTCCTATTATTA TCCCCATCTTATAGATGAAGAAAATGAGGCACCAGGAAGTCAAATAACTTGTCAAAGGTC ACAAGACTAGGAAATACACAAGTAGAAATGTTTACAATTAAGGCCCAGGCTGGGTTTGCC CTCAGTTCTGCTATGCCTCGCATTATGCCCCAGGAAACTTTTTCCCTTGTGAAAGCCAAG CTTAAAAAAAGAAAAGCCACATTTGTAACGTGCTCTGTTCCCCTGCCTATGGTGAGGATC TTCAAACAGTTATACATGGACCCAGTCCCCCTGCCTTCTCCTTAATTTCTTAAGTCATTT GAAACAGATGGCTGTCATGGAAATAGAATCCAGACATGTTGGTCAGAGTTAAAGATCAAC TAATTCCATCAAAAATAGCTCGGCATGAAAGGGAACTATTCTCTGGCTTAGTCATGGATG AGACTTTCAATTGCTATAAAGTGGTTCCTTTATTAGACAATGTTACCAGGGAAACAACAG GGGTTTGTTTGACTTCTGGGGCCCACAAGTCAACAAGAGAGCCCCATCTACCAAGGAGCA TGTCCCTGACTACCCCTCAGCCAGCAGCAAGACATGGACCCCAGTCAGGGCAGGAGCAGG GTTTCGGCGGCGCCCAGCACAAGACATTGCCCCTAGAGTCTCAGCCCCTACCCTCGAGTA ATAGATCTGCCTACCTGAGACTGTTGTTTGCCCAAGAGCTGGGTCTCAGCCTGATGGGAA CCATATAAAAAGGTTCACTGACATACTGCCCACATGTTGTTCTCTTTCATTAGATCTTAG CTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAA AGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCC CGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCC CAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCC CAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCTTCATGCAGCTTCTTCTGATAAATG CCTCCTTCAGAACTGGTCAACTCTACCTTGGCCAGTGACCCAGGTGGTCATAGTAGATTT ACCAAGGGAAAATGGAAACTTTTATTAGGAGCTCTTAGGCCTCTTCACTTCATGGATTTT TTTTTCCTTTTTTTTTGAGATGGAGTTTTGCCCTGTCACCCAGGCTGGAATGCAGTGGTG CAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGTGTGCGCCACCACACCAGGCTAATTTTTGTATTTTTTG TAAAGACAGGTTTTCACCACGTTGGCCAGGCTGGTCTGAACTCCAGACCTCAGGTGATTC ACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTACT TCATGGATTTTTGATTACAGATTATGCCTCTTACAATTTTTAAGAAGAATCAAGTGGGCT GAAGGTCAATGTCACCATAAGACAAAAGACATTTTTATTAGTTGATTCTAGGGAATTGGC CTTAAGGGGAGCCCTTTCTTCCTAAGAGATTCTTAGGTGATTCTCACTTCCTCTTGCCCC AGTATTATTTTTGTTTTTGGTATGGCTCACTCAGATCCTTTTTTCCTCCTATCCCTAAGT AATCCGGGTTTCTTTTTCCCATATTTAGAACAAAATGTATTTATGCAGAGTGTGTCCAAA CCTCAACCCAAGGCCTGTATACAAAATAAATCAAATTAAACACATCTTTACTGTCTTCTA CCTCTTTCCTGACCTCAATATATCCCAACTTGCCTCACTCTGAGAACCAAGGCTGTCCCA GCACCTGAGTCGCAGATATTCTACTGATTTGACAGAACTGTGTGACTATCTGGAACAGCA TTTTGATCCACAATTTGCCCAGTTACAAAGCTTAAATGAGCTCTAGTGCATGCATATATA TTTCAAAATTCCACCATGATCTTCCACACTCTGTATTGTAAATAGAGCCCTGTAATGCTT TTACTTCGTATTTCATTGCTTGTTATACATAAAAATATACTTTTCTTCTTCATGTTAGAA AATGCAAAGAATAGGAGGGTGGGGGAATCTCTGGGCTTGGAGACAGGAGACTTGCCTTCC TACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTC ATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTT GGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCT TTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGT CAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACT CCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTT TCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGA CTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGA TCTGTCTGTCTTCTCTCATAGGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTAC ACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCTGTCGTCACCAATCCC AAGGAATGAGGGACTTCTCCTCCAGTGGACCTGAAGGACGAGGGATGGGATTTCATGTAA CCAAGAGTATTCCATTTTTACTAAAGCAGTGTTTTCACCTCATATGCTATGTTAGAAGTC CAGGCAGAGACAATAAAACATTCCTGTGAAAGGCACTTTTCATTCCACTTTAACTTGATT TTTTAAATTCCCTTATTGTCCCTTCCAAAAAAAAGAGAATCAAAATTTTACAAAGAATCA AAGGAATTCTAGAAAGTATCTGGGCAGAACGCTAGGAGAGATCCAAATTTCCATTGTCTT GCAAGCAAAGCACGTATTAAATATGATCTGCAGCCATTAAAAAGACACATTCTGTAAA OMIM ID 176300