Home

Search

Browse

RAGs

User guide

FAQs

Links

Questions

Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DKC1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 1736 Official gene symbol DKC1 Full name dyskeratosis congenita 1, dyskerin Aliases ,CBF5,DKC,FLJ97620,NAP57,NOLA4,XAP101, Gene summary This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] Location Chromosome: X   Locus: Xq28 Gene position 153991031 - 154005964  Map Viewer Gene orientation plus Gene size 14934 bp Gene sequence >DKC1:4908969..4923902:Length=14934 AGCAAATCGCATTGCGCAGACGACCAGCGGGCGCCTCGGATTCCGCCCCCGGGATGGCCC CGCCTCCTCCCGCCCCGCGGCAAGGCACGCACAGGGCAGTGCGCGGGTGGGTGGGTCCTA GCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCGGCTGTGGA CCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGGTAAGGGCTGCAGG CTTCCGGGCCGTGCTAACTCCGGGCGACTCGGGGAACGGGGGTGGGGGGATGGTATCGGG GCCCGCGCACGCCTCCCTCTGGTTCCCGCCGGCGTGTCGGCCTCTTCACCGCCCGGCCTT AAGCCGGCCTTGTCTCTCGGCCCTGGCTCCGTGGCAAGGGCGCGAGAGTGGGAGCCCCTC GCGGTGACTTGGCATGATGGGGCTCGGCCCTCTCACCTCCCTGGGGTCCGGGTCGCCGTC GAAAGACATCTGCCGTGCTGCCCACCCCGCGGTGGCGTGGGACGTGGCAGTGTCTGTGCT GCTGCCAGCCCGGACGCCGCCGTTACAGCTCCATGCGACTAGGGGAGCAAGGGTAGTGGA AACGGGCCGAGAAGAAAAGGAGCGGAGGGACCCCGGAGCAGGGATAGAGCTCCGAGTTGC AAGAAAGTTCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTT CCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGA ACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCA TACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAAT GGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGT GGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAA ACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGGCAGTTGGGACACAGCGTCGAGAGT TTGTGTACTTAAACATGTCTAAGCAGAAAAAGGACAGTAAAAATATAGCACAGGGCCGGG CGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAG GTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATT GCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTG GGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTG TATATATGTATATTATATATGTATGTATTATATGTATGTATATTATATATATATAGTACA CAAGGTTATAAGTGGTGCACCCGTAGAGGAGGGCACTTACCATGAATGGAGCTTGCTGAG CTGGAAGTTGCCCTGGTTGAGTCGGTGACTGAATGTGAAGGCCTCAGACATTACACTACT GGAGACTTTATAATCTGTACACCTAGGCTACACTAAATTTATAAAAATATATTTTTCTTC AGAATAAATCAACCTTAGCTTACTGTAACTTTATAAACTTTTTACTTCGACTGTTGTAAT AATACTTAGCTTAAAACAAACACATTATTTAGCTGTACGTAAATATTTTCTCTGCTTATC TCCTTATTTATAAGTTTTCTATTTTAAAATTTTTTAATTTTTTTCTTAAAAAATTTTTTT TTGTTAACTAAGACACAAACACAGCACACACAGTAGCCTTGACCTACACAGGGTCAGGAT CATCAAGACATCACTAGGAGATAGGAATTTTTCAGCTCTGTTATAATCTTATGGGGGCCA CCATCACATACGCAGTCTGTACTTGCAAAACATTATGTGGCATGTGACTGTAATTGTAGA CCTAAAATCCATTTCCTACCTGCCCTAATTTCGGTCTTTATTTTAAACCCTTGTTTCATT TATTCTTGGGGAAAATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAG AAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGTAGT AATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAA AGAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTC GAAAAAGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTAC TAAATGGTGCTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACA GACCCGCCATCCCCCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCC CCTCTGTACTCCTGGTTCATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGC ATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTT CAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACAC GCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGG CCCCTTTTGCTAAAGGTATGTGGTTAAAATCGTGCATCAGATGAATGCCTGCTTTTACGT TATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGACTTTGGG AAGTGCCCACTGATACAGTTTAAAGCAGGATTCCTTAAGGTATCTGAAATGAGAACCAAG TTTTTAAAAAATTGGCAGTGCACTCAACACTGTTGTAGAACACATGTCCCCACAATGTTA AATTGCTGAGTTTGTCAACAGTTCTCAGTTTTTGTACTTAGTCCATCTTGCAGACCTATG CCAGTTTGTGGGCCACATAGTGGTACTGACTCTTTTTTTACATGTGCTCACGACATGGTA TTTTGTTTTGTGTTGTGTCGTTGCTTTGTAGAATTTTGATAAGCTGAATGTAAGGACAAC ACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATAT CAGGTAAGTGTTGGGAGGAGGCACTGTGCAAACTTACTTTCTTTTGAAAATGCTTTCACA TCAGCTATTCAGGAAGGCAGTGGCATGCCAGAATAGCTTTGTCTTGAATATATAACCTGT ACCCGCAGTGAATTATTTTTCTTTTTAACTTTTCAGATTTGTTGTTTCACTGGAGCATTA AGAGTGGGTGATACATTAATTTTTTTTTTTTCCATTCCAGGACAGGTTTCATTAATCTTG ACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGG TGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGT GCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGG AGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTG GAAACTATTTCTTCATTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTC TGTGTACGTTCTGTCCCCTGCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATAC TAAGCATGTATTCATCAAGCTGACTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTC ACTCCAGGCTTCTCACTCTGTGCTACCGCTTCTGCCTAAAGTATCCTTCGTTCATTTTTA TCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTTTTCCACGCAGCTTCTACACTGAGTACT CCCAACTGTCCCTGTTAGTACATTGAATTCCCAGTGAGAAAGTGTCTTCATTCTTTCCCA CATCATCACCATGAAATCTCTCTTAATGCAAATTTTATAGAAACACAAGGTCAAACTGCC GCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGAAATATGGAAAACAGAAA ACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAGAGTATGTGGGGAT TGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGTAAGTCTGCAATT GTAGGGAGGACACCCTTTGTTGACTTGGATCTCTGAGCCCCTAAACATCTGGAGATGGGT TAGCTGTCCTGACTGACTCCTTTTGTCCCCTTTTCAGTCGGCTGCTGCAGCCAGCCTGGA CCAGTGACTGCACATGTACATTCTGATGAGGTGTTTGTTTTCATTTGTGTTTGTTCTTAG GCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAG AGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGA AGATTAGGTGAGTCATTAGGCCTGTGAGTGGGTATGAACACATTCTTCAGGATTCTGTTC TCTTATTAAAAGTAGATGCCCTTGAAGTTGAAGACTTTCTAAAACCTGCCCTACAGCTGG GATATTGTCTGTGGGCGATAGTTTTTGTTATCTTTTGTTGAAAAAGTGAACAGTGCCTAG TAAAGTGAGATGGCTTTTACACCTTTTATGATGACTGCTTCTGCTGGAGTTGAAATGTTT TCATTCTGCATTTGTGTAGTTCGGTGCTTTGTTCAAAGGTAAGTGTTTTCACCAAAGTAT GTTTTGCATGTGTTTTTTATTTGTTGCAATTTTGACTGCTTAGAAGTTTCTGTTGTCAGA AGTAAATTTAAGACAATGCCAATTTTCCTCCCATCCATGAAACATACCATGCTGAATATA CCTGCAACTTAAGTGTTAAAAATTCTGCTAATATCAGAATTACAGATCTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCATGA TCTCGGCTCACTGCAAACTCTGTCTCCCGGGTTCACACCATTTTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTATAGGCGCCCGCCATCATGCCCGGCTAATTTTTTGTACATTTAGTA GAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACGTCGTGATCCACC CGCCTCTGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCTGGCCAGAATT ACAGATCTTTACAGCAAATGCTTATATTTTAAGAAGTGTGTCTGTCACCTCTAGTCTTGG TGGCTCAGATGAAGGATAACTGCATTTCTCAACCAGTGATGTATTTACAGTAGGTGCTGC TTTTCTTTTGTGTGTGTGTATCTTAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTA CATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGCAGGA GCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGTATGTGTTACGGGGCTAGAAGT TTTAGAGCTGGTTCTTACCATCTGCCAGCCTTTGATGGCACTCCACTTGCTTCATGTCGT GGGAAAGATGCTTTCCAAAGTGTTGAGTTCAGTCCAGGGCAGCTTCCCTGTTCTGTTAAT TAAACTTTGGGACATTAAAATGGGCTAAGGGAGATGATTGGGTAGAAAGTATTATTCTAT TCATTTGCCTCCCAGCCTACAAAAATGCCTGCTTGGGGTCTAATACTTCAACGGTTAAAG ATGCCTGGAAGAGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGATGCCTGGAAGAGCCAGGACTGAAGAGGCTGAAGA CATAATGAGCTTGGACTAGTAAACAAGTGACATTCAGTTTTAGGAAGTTTGGGGTCTGAT GGGCTGAGATACAAATAAACTGAATTATTTTCATACATGGCTGCTTTTCAGGACCACATG GTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGT TACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTT ATGAAAGACAGTGCAGTAAGTTCCGGGTTAGGAGTTTATATTTGGAAAGAACGTACTCCA AAGATGAGGCTTGCTCTTTTTATTGTTTTCCTTGGGTTTTATTTTATTTTTTTCAAGTCC AAACCAAGTATATTAATTTAAAGTAAAAGTTTAATGGTAGGCATACTTAAAAATAAGGCA CATTAGGCCAGGCACAGTGGCTGATGCCTATAATCCTAGCACTTTGGCAGGCTGAGGCAA GAGGATCACTTGAGTCCAGGAAGGAGTTTGAGACCAGCTTGAGCCCAGGAGATCAAGGCT GTGAGCTGTGTTTTTATGATGATCAGAGAGTTGGCCTTTTATAAATTAAAACATTGTCTT TTTCTCTAACTTGAGGGATAAAAATTTCTGGATATTTAAAATGTTTGTAGTTGGTAATTA TTTATATTCAAATCTTGTATAGATGTTCACATTTTTTGTATGTGTATAGGCTGTAATAAA TACTGAAAGATGGCACCATAATAGTTGAAAAAACTCAGTCACAAAACAGTGGACAACATA AATGTGATGTCCTCTCCTTATCAAACCATTGGCTTCTGGGTGAATGTAAAGGGAGGGGAG AATGTGATCAAAAGAGGTCTAGGTGAGTGGAGATGGTATGAGGCAGATGGGTGCATTGGG TACCATTGAACCTCTGGAGAGGTAGCCTTAACTTGTACCCACTGACCTATAAATTCTGCA CCAAGACTTTTGTGTGATTGGTTCAACAGGGCTCAGTAATCTTGTTTTCAAGTTCTTTAA GAGCCTGTTATTGCCTGGATCTCCAGTAAATCTGTTCTTTCTCCTCATAAGGAGGAGAGA GGAGTAATTAAGGAATGCCAAGGCTATTTTTATGTTTCAAATGAAAATATGGACCACGTG CGGTGGCTCACACCCATAATCCCAGCACTTTGGGAGGCCGGGCCAGGCAAATTGCTTGAG CTCAGGAGTTTGAGACCAGCCTGGGCAATATGGTGAAACCCTGTCTCTATTAAAAATACA AAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGAAT CACTTGAACTTGGGAGATGGAGGTTGCAGTGAGCCGAGAATGTGCCACTGCACTCCACCC TGGACAACAGAGGGAGGTTCTGCCTGAAAATTAAAAAAAAAAAAAAAAAAAAAAGAAAAT ACTTGTGAGTCTCTAGAACCTGAAAACCTGAAAGTCTTCTTTACTACTTTTGAGTCGTGT GTAATGTGCGGAGAGTGGTACCTATAGCACAGTGAGGTGGCTCTTCTGAGTACCACTCAT GCCCCTTGCAGCTAGTGGGCTATAAGTGTCATCCCTGTTTCCTGGTGTCAGGCCCCACTC CCTTGTTGTCCTCCTTTACTCTGGTGTGGGAGTGGGGTGGAGGGCAGCAGCTGGGCCCCT TACACTTGGTGCCATCTCTGCAGGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTC CAGGTGTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCA CCAAAGGAGAAGCAATCTGCATGGGTAAGAGGGGATGTTTATTTTTTAAATTCTAAATGT TTGTGGTTACATACTAGGTGTATATATTTATGGGGTTCATGAGATGTTTTGATACAGGCA TGCAATACATAATAATCACATCATGGAGAATGGGGCATCCATCTTAAGCATTTATCCTTT GTGTTACAAACAATCCTATTTTACTGTTAGTTATTTATCACCTTAGTTATTTTAAAATAT ACACTTAAGTTATTATTGATTATAGTCACCCCGTTGTGCTATTAAATAGTCTCACTCTTC TTGTTCATTCTTTTGGTTTTTTGGTGGTGGTGTTTTTTTTTTTTTTTTTTTTTTGAGACA GTCTTGCTCTTTTCACCCAGACTGCAGTGCAGAGACGTGACCTCGGCTCACTGCAACTTC TGCTTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTTCCGAGTAGCTAGGATTACAGGT GCACACCATGACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGTCATGT TGGTCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCTGCCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACCATGCCGGGCCTGATTTTTTTTTTTTTTGTACCCATTAACCATC CCTACCTCCCTGCCAGCCCCCCACTACCCTCCCAGTCTCTGGTAACCATTCTTTTACTCT TCTCTGTCCATGAGTTCAATTGTTTCGATTCTTAGCTCCCACAAATAAGTGAGAACATGC AATGTTTGTCTTTCTGTGACTGGCCGATTACACTTAATATAACGATCTTCAGTTCCATCC ATGTTGTTGGAAATGACAGGATCTCATTCTTTTTTAAGGCTGAATAGTAATCCATCGTGT ATATGTACCACATTTTCTTTATCCATTTATCTGTCGATGGGCACTTCGGTTGCTTCCAAA TCTTGGCTACTGTGATCTCTTTGATAACACTGATTTCCTTTATTTGGGGTATATACCCAG CAGTGGGATTGCTGGATCCTATGGTAGCTCAATTTAGTTTTTCGAGGAACCTCCAAACTG TTCTTCATAGTGGTTATACTAATTTACATTCCCATCAACAGTGTACAAAGGTTCCCTTTT CTCCACATCCTTGCCAGCACTTGTCATTGCCTGTCTTTTGGATATAAACCATTTTAACTG GAGTGAAATGATATTTCATTGTAGTTTTGATTTGCATTTCTCTCGTGATCAGCATTGAGC ACTTTTTCATATGCCTGTTTGCCATTTATTTGTCTTCTTTTGAGAAGTGTCTGTTCAAAT CTTTTGCCTGTTTTTTGATCAGATTATTAGATTTTTTTTCCTATAGTGCTGAGTTCCTTA TATATTCTGGTTATTAATCCCTTGTCAGATGGGTAGTTTGCGGATATTTTCTCCCATTCT TATGCATATGGATATCTAGTTTTCCCAGCACCATTTATTGAAGAGACTGGTTTTTACCCA GTGTATGTTCTTGGCACCTTTGTCAAAAATGAGTTAAATGTAGGTGTGTGCATTTGTTTC TGGGTTCCTTATTCTGTTCCATTGGTTTATGTGCCTGTTTTTATGCCAGTACCATACTGT TTTGGTTACTGTAGCTCTATACTATAATTTGAAGTCAGGTAATGTGATTCCTCCAGGTTT GTTCTTTTTGCTTAGGATAGCTTTGGCTATTTTGAGTCTTTTGTGGTTCCATGTAAAGTA CCAGTGTTTTTTAACTTGTGAAAGCTTAGCTACTGTTGGATTGTCTCTTAAGACTTTAAA TGCTCTGCGCACCCTCTTAGTGAATGAACCTTAGAGCTATTCATTTAATGGGTCTAATTT GTACCAGAAGTAAGCATGTCATCAGGATTCCTTAGCTCTGTGAGCAGGCAAGGCAGCCAC GGCTTATGGACAGCAGCAGAAAAGGAATCCTTAAAACTTCAAAGGTTCTGTGGCCCCAAA GGGAGTGTGCATGCCGTTCTTATAGACGTCTTGAGCTGCAAGCCTGTTATGTGTATCGTT AGGTGCTTTGGTTAGGTGTTTTTTAACTTCAGAAGTTTAACGTCATTTCAAAGGCCTCCT TCTCATAATGGAGTATTTCCTCCATATGCACATCCTGAGCAAAGGTAACCCCAATTAAAG TAGTAGCTCAGAGTTTTAAAAGTTTTAAAGTGGCATACAACAGTAGAATTGGGGCTCATC AATTATCAATTCTTTCACCCTTCAAATAATTCTTTTCTTTATTCAATGCCTGTAGCTATT GCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAG AGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTAAGT GGTACTGGGTTGCGTGCCCTGCCAGGTTCTTTTTTTTTTTTTTTTTTTTTTAAATTTATT TTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCA GAGGACCCTGCGGCCTTCCGCAGTGTCTGTGTCCCTGATTACTTGAGATTAGGGAGTGGT GATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACC GCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGG GGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAGTTTTTCTTAGTGCAGAACAA AATGAAAAGTCTCCCATGTCTACTTCTCTCCACACAGACACGGCAACCATCCGATTTCTC AATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAACCGCCATTGCCATCCTGGCC CGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTCCTGCCA GGTTCTTTTGTTTGGCATTGTTGAATACTTGGGCAGCTCTTGGTGTGTTTCACCACCACA GCCTTGTATTGTGCTGGGCTCTGGGTTGTCGATGAGTGGAAACAGGCCCTGTCTTGGGCC TTAGAGATTTCAGTCTAATGAGGGGAAACAGTTGGGCATTACTCACGTAATCACACAGTG GAATGGCGAATTTCATGCACGTTAGTGGCTACCAAGGAGTGCAGAGAGGTGTCTGTCACC TGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGT GTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGG GAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCT GCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTA GTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGG AGGAACCTTGTTCTATTCTTTGTAGTCACCATGCCCGCTTCCAGCATTGACACCATTCTA ATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCC TTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATG TTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACTTGC TGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCC ATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGA GCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGA ACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTG CACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTG CAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTT GCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCT ATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAG CCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAG TTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGAC TGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCT GCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGT CCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTC AGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCC GCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATT CGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTG TTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGA GCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGC TGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGA GAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTG CTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGA CTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCT GTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTC TTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGA GAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAA AAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCT GGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGG GAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGG GGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTC CCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTG ATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGA CCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAA AATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTT CTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTC TAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTG GTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAA CATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGA GTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATC CCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCC AATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCT GTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGT TTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAAC CCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGT TTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTT CTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAAT CCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATG AAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTA AGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATT GTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGA OMIM ID 300126