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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJB1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2705 Official gene symbol GJB1 Full name gap junction protein, beta 1, 32kDa Aliases ,CMTX,CMTX1,CX32, Gene summary This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] Location Chromosome: X   Locus: Xq13.1 Gene position 70435062 - 70445065  Map Viewer Gene orientation plus Gene size 10004 bp Gene sequence >GJB1:8753050..8763053:Length=10004 CTGGTGGCATAGGGCAGACACGCCTGCAGACATTCTCTGGGAAAGGGCAGCAGCAGCCAG GTGTGGCAGTGACAGGGAGGTGAGGAGACTGGGGGCTGAGGGAGGTGGGCCAGGGAGGGC TGATGTGGCACAGTGGGCCGGAAATAGGGGCCGGGTCTTGCCTTCTACTGACCTCCGCCT TCAGCCACTTAGGTCCCTTCCATGCTTCCCTCTGAAGCTGGGGTGAGGCCCCTCCTGCCA GGTGCCAGACTTGCTTAGCCTCTCTCTGCAGCCTCTTTCCAGGTTCAACATTGCTTTTCC TCTCACTTTTTTTCCTCTGGCCAAAGATTCCCCTTATTCCCATAGGGCCAGATTCTCAGG AAGACTTGAGGGACCCCCTAGGTGCAAGGTGGCCAAGTTTGTCTCTCTGAGACATTTCCT GCCACACAGGGTTAGGGTTTAGTGGGAATGTTGGGCACTGCCAGGTGCTGTTTTCCTTCC TTGATTACAAGGCAAGCCAGGCATGCACCCAACACGGGGCTGCGAGTGGATGAATAAAGC GTGCTCAGCGGGCTGCAGAGGGCTAGCCAACAGGGCCAAGGATTTGGGAGCGTGTGTTTC CACTTTCTTGAAGGAGGCAGACTGACTCAAGCTGAACTTGGAGTAATTGATGGTTCGGAG ATTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCTGGCTGGGGTGCAATGG CGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTA GTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGAT CTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCG GTTTGGAGATCTAAAGGAGGGGTGTTCCCCAGCTGTTTGAAAGTTGTTGCAGCTGTTGGG AATGGCACAGCAGAATGTGTAAACTTAGAAAATGAAATGAGGAGAGGAGAATACAGACAA GAGGGGTTTTAATGGAGAGAAGTATAGATTAGAATGCAGCCTGGCAATGGAAAAGGGACC CAGGCTTGGGTGAGGGGCCAATACGATTCCTACTCTGAGCTCCAGCACTTGCTTACCACC TGTGTAGTAAGTTACTCAGCTTCTGTTAGCCTTCATTGCCTCACCTGTGAGTTGAAGACA ATAGCTCCTGGCTCACGGGGTTGTTGTGAGCGTGAGAGTCTGTGAATATACACACAGGGG GCACTCCATAAATGGCAGCTGTTATAATAACCCAAGCAGAGAGCAACAGGAAGTCAGGTG GGTGATGGAGGAGTAAGGGAGTAGCGTCCAAACAATGGGGAAGGGAGCTGGCATAAGCAG AAGCTCTCTGAAAAGACCGCAGCAGAGAGGGGGAAAGAACAAATCGGAATGAGCTAGACT GGACCTGACCCAAGCCTGGCCACGGAATATGTATGGCAGGGTGGAGAGGCTAAGTCCAGT GACTGAGATATTGCAGAACTGCAGGGTGGAGGCAAGAGAGAGAAGCAGGGGAAGGGGAAG AGAGCTGGAGGAGTTTGGCCTTAGCCACACCAAACTGATGAAGGCAGCCAGAAATTCCTA AGGAAATCTCAAAGAAAGCCCCATGTCCCTTCCTGACCAGTGACTGCCTGCGAAATGGGG GAGGGAGCATGGAGTCCGAGGCTGAATGTAACCTCATCCATCCCAGCCCACCCCTCTTCC CCAAACCCCAAATCACAAGGATTTTCCTGTAGTTGGAAGGATAGGGAGGAGGTGGGGGCA GAAACAGAGAGAGACAGAGACAGACTAGACGAATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGCGTGTGCCAGCACACGCAGGAAAGTGTATAGGTTTTTGAATAGTAGGCCTG GTCTCAGAATGCAAACTCCTTAAAGGAAGAGAGGCCGCCATAAGCAGCGCCATATACAAA GACTTTGAGGTAAGAAAATAAACTTGGAACTTGATTCTACCATTTAGCAGCAGTGCAATT GCCGTTGAGGCAAGTTTCTTAACCTCTCTGAGCCTCAACTTCCTTGTCTGAAAAATGGGG ATAATATTACAGGACTGCTGTAAGGACTAAGTGAGATCACCTGATTTTGCACTGTGCTTG AGTGCTAGGGCAAATCTAAATCTGGGGACAGGGCCAGAGCCTGACAAGGCCAGAGAAGTC CTGTCTAATTAAACATGAGAGCAAAACACGCGTGCAGCAACACCGAGGATATCAATACGG GGACTTTAACCCGAAGTCACAAAAACAGTTTGGATTTCAAAATCAGGTCACTCCCCTGGA TGTTTTTAGAATGAAATCCTTGAGGCATTGATATTGACATAGGGATCAGTTCTCCTTCCA AAGGTAACAGCAAAAATTGAGATCACAGCACCCAGACAAGGGTCCTTAGAGGCCCCACAG GGAGCTACTGGCTATGTCCCAGAAGACTCAAGAAGAAAAAAGGCGGGGAGTTACAAGAAC CTAGAAACTCAGGGGTGGCCAGGATGTCTGTGGCACACCCCTGAAGGGCAGAGAAGAGAA CAGCTAAGGTTTGCTTTGCAGTTTGAGGAAGCAGCCCAAGAAAGGTAAGGAAAGGAAAAG CAGACCAAATCAAGAGGCAGCAGAAAATCCTGGGACAGAAGGAGAGGGAAAGAGTTGTCA ATTGCTACAACAAAAGTACCTTAGAAAAAAAAGAGCTGGGCCAGGCACAGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGCAGGATTACCTGAGGTCAGGACTTCGA GACCAGCCTGGCCAACATGGTAAAACACCATCTCTACTAAAAATGCAAAAATTAGCCAGG TGTGGTGACACGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCATTTG AACCCAGGAGGCGGAGGTTGCAGTGAGCAGAGAGCGTGCCACTGTACTCCAGCCTGGGTG ACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAGAAAGAGTTGTCAATTGATAGGAAAG GGGAGAAGGGGCTAAAAGAAAATAAGACATAGCAGTTTTGAATCTCCCTGTTCCTTTTTT TTTTTTTTTTCAATCTCCCTGTTCCTAAAAAGTACCCACAGAAAGAAAAGTTATACCTGT AGCCAAGTAGAGCTTATGGGAAAGAGTATGTGCTCTGCGAGAATCACTTGAACCCGGGAG GCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCTACAGAGTGAG ACCCTGTCTCAAAAGAAAAAAAAAGTGTGTGGCCAGGCACGGTGGCTCACGCCTGTAATT CCAGCACTTTCGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTTG CGGGGGCGCCTGTAGTCCCAGCTACTCAAGAGTCTGAGGCAGAAGAATGGCGTGAACCCA GGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACTGAG CTAGACTCCGTCTCAAAAAAAAAAAAAAAGTGTGTGTTCTGGAGTCAGCTTGACCTGGTT CAAATCCCAGCTCTATCACTTACTGACTATGTGACTCTTAGATAAGTCCTTTCACCTTTC TTTGCCTCTGTTTGCTCATCTGTGATATGAGGATAAAGCAACACTTACCTCAAAAAGTTC TTTTAAGGATTAAATGACAGTGCATGTGCAGGGGCCTGGCATATAACAGGTACTCAGTAA ATTTTTTTTTAATAAAAATGCTACAATGTTGAGGTGGTCTTATTATTATTATTATTATTA TTATTATTATTATTATTTTCTGAGACAGGCTGGAGTGCAGTTGGCGCAATTGAAGCTCAC TGCAGCCTCGACCTCTTGGACTCAAGAGATCTGCCTGCCACAGCCTCTTAAGTAGCTAGG ACTATGGGTGAATGGCACCAGCCACCATGCCTGGATAATTTTTGTGTTTCTTTTTTTGTA GAGATGGGGTCTCACTATGTTGCCTATGGCTGGTCTTGAACTCCTAGACTCAAGCGATAC TCCTACCTCTGCCTCCTTTTAATTTTTTTTTTAAGAGACGGGGGTCTCCATATGTTGCCT AAGAATAACCTGGCCAGGGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTAGG GAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCT TGCAGTGAGCTGAGATCGCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCCTC TCAAAAAAAAAAAAAAAAAAAAAAGAATAACCTGGCCAGGTTATTCTTTTATTATTATTA TTATTTCTTTTATTCTTTTTTTTTTTTAAGAGGCAGAGTCTCGTTCTGTCGCCCAGCCTG GAGTGCAGTGGTGGGATCTCAGCTCACTACAACATCTGCCTCCCGGGTTCAAGCGATTCT CCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCATGCGCCACCACGCCCAGCTAATT GTTGTATTTTTAGTAGAGACATGGTTTCACCACGTTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTAATCCACCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGTGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCCGGCTAATTTGAGACACCT GGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGTGCCCGGCCTTTTTTTTTTTTTTTAAATATAATAGAGACGAGGGTCATGCT ATGTTGCCCATGATGGTCTCAAACTCCTGGGCTCAAGCAATCCACCCACCTCAGCCTCCC AAAGTGCTGGGATTCGAGGCGTGAGCCACTGCGCCTGGCCTAGGTTTTGTTTGTTTGTTT GTTTGTTTGTTTGTTTGTTTGTTCGTCTTTTCCGAGACGGAGTCTCACTCTTTCCCCCAG GCTGGAGTGCAGTGACGGGATCTCCACTCACTGCAACCTCTGCCTCCTGGGTTCTAACAA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACGGGTGCCCGCCACCACACCCAGCT AATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATGTTGGTCAGGCTGGACTTGAACC CCTCAGTGATCTGCCCGCCTAAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCCCTG CACCCAGCCGGTTATTCTTAATAATTCTCTGGCCACCTGTTCTAGAGTGTAACACATCTC ACCACCTGAAGCATTTCTTTTCTTTCTTTGTTTCTTTCCTTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GATTACAGGTGCATGCCACTACACCCAGCTAATTTTTGTAATTTTAGTAGAGACGAGGTT TCACCATGTTGGCCTCGATCTGCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTG TTGGGATTACAGGCGTGAGCCACCTTGCCCAGCCCCTGAAGCATTTCTTTATGGCTAACT GTGGTGCCTAGTGCAGCAGCTTTGCATATAGAATCCCAGGCTTGGGAGAAAGGGCACCCA TAGCCCTGCTTCCCCATGCTGGTTGGCACATGACATGAACTCACTAAGGCTTTTTATTTA TTTATTTATTTATTTATTTATTTATTTATTTATTTAGCTAAATGAAGAAACCTTGTTCTG AGAAGTAACCTATGTCCTGTGGACTGTCCTTCTTTCCCCAGATTCTTTCATCCCATTTCC CAACTTTTGCAGTTGCTGTTACCCCACCCCTTTCCTCTACAGCATAGAGGACCACCCAGG GCTGAATATGAGGCTTCTTCCACAACCAGTTGCTCTGCTGTGGAGCATGCACTGGGGTCA GGAAATGACTCCAGGGATCACTGCACCTCCTATGGTCCAGGGCTGCATGTCCTCCTCACA TTCAGTTTCCTGCTGCTAGTATGATCTCCTTGCAACTTAATGGCAGAAGTGGCAAGAGGT GGGAGAAGCCTTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTG GCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAAT GGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCA CACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTT CAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAA ATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGA GGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCT AGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCAT TAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTT GTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC GGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGT GATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACC TCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGC GCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATC TGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCC TACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGC TTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATG GAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCC TCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTG ACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTC ACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGT GGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCT GGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTT TGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACT GGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGC GGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGG CCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGA GTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCT TGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGG GCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGT GACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGG GGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCT TCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACC TTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATC TTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAA TCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTC TTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCT CTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTT GAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCA GGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTC TTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGC GACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACC GTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAG GTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCT TCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATC AACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGC ACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCA GGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCG GTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTT CCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCT ATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTC TTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCT CCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATC AGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGG AGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAA GGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCA GGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTT ACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTG OMIM ID 304040