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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HAP1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 9001 Official gene symbol HAP1 Full name huntingtin-associated protein 1 Aliases ,HAP2,HIP5,HLP,hHLP1, Gene summary Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] Location Chromosome: 17   Locus: 17q21.2-q21.3 Gene position 39890898 - 39878891  Map Viewer Gene orientation minus Gene size 12008 bp Gene sequence >HAP1:complement(5153043..5165050):Length=12008 GGCAGACTCGAGATGCGCCCGAAGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGA CCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAG CCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCT GGATCCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCC AAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATG CCCGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGG GCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAGACGCCAGCCGCCTACGTT GGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAA GGTAAATCGGGCCCCCGGGGTCCTGGACCGGGTGGGGACTGGGGCAACTCCAGGGAGGAA GTGGCCCCATCGGGTCCAGGCACCCCGCCCCCTCTAGCACTCAGTGTCACCCGTCCACCA CCCCCGCGATGTCACTGCGGTGTCTGTCTGGTCGCCCCTTCTCCATCTCCTCCTCTGCTC TTGTCCCCTGGTTTGTGCCCGTGAGTCAGGTTCTGGGGCCTGCACGCTCGCCCACCCACC TCCACGCGCCTCTTGCTGCGGCAGATCTGCACCCCTTCAGCGCCCCTCTCCTGGGTCTAC CGCAGTGCCAGGAGAGGGGCGGGGGGCTGCGGGAGGGCGCTGTCCCGCGCGCTCTGAGTC TGCGCTGGCCGACCGGGCTTGCGTGCGATGGAGGGGTGGGTGGGCGGGCGGAGGGGGAAG TTTTGCCCACTTTTTGGTTGCGGGTATGGGGGCAAAGTCGCGCTCTTTTCCTGCCCCTTG TCTCTCCTATCCTCCTGCGGGTCGGGGGAGATCTCTGGATTGGGCCTAGAGGCTCGAGTG TCTCCTAATCTGGTGAAGTCTTCCTCCTGTCCTCTGCACACGCAACAGGTGCAGGGTGAG TGGCTGCGTCTGTTTGTATGACCCAGGAGACTCCATTGCACTGCCTCCTGGGTAGGGGGT GATGAGCCAGTCTGAGGCTGTACTTCCCCTGGCTGTCTCCATTCTAGGCGCCAGGGACCC AGGTGTCCGGAGAGCCCAGTTTCTGAGCCTGGAGGACTGTGACCCCCTTACCTCAGGCTC CTCCAGGGGTAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTGACGCCTGTA ATCCCAGCCAGCACTTTGGCAGGCCGAGGCGGGCGGATCACTAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGGGCGT GGTGGCGGGCGTGTATAACCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAAT CTGGGAGGCAGACGTTGCAGTGAGCTGAGATCTCGCCATCGCACTCCAGCCTGGAGGACA AGAGCAAGGCTTTGTCTAAAAAAAAAAAAAAACCAAAAAAAAAAAAAACCAAAAAAAACC CAAAAACCTAAAAACCCTGTCCACTTGGCCCTGGGAGCAGGGAAGGGAGTGTTGAGTGCC GAGGGGTAAGGGGAGGATGTGGGGGGCAGGAGGGGAGCCCAGTCTTCTCTCCCGATGACC CTTGTTGGAGAACTGACGATAGGACGGGAAACAGCTGTTTGCTGGTAGCATCTGCTCCTT TTTCCTGACCTGGCTGGGCCTTTTCTCCCCACCTGCCGCCTCCTGCAGCACTGTGTCCTA ACCTACCTCCGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGC TGGAGGAGGTGTGTACTGCCTTCCTGATCCAGGCAAGCCCTTATTCTAGTTTTGTCCTGT AGGGGTGGGGGTCTTGTTTATTTCCTGATTGGCAGTCTCTCTGGGGCCCCAGGTTAGGGT CCTTCTTATGGAAGACAGGTCGATGTGGGATGTTCAGGCTGGAAGAGCTCTCAGAGCCAA TCTGGTCTGATCTTCTTTTTCCATGAGGGGAAACTGAGCCAGGTTCCACAGTGGGTTAAT GGCAGACTCTGGTCTGGTACCCTAGAGAACTAGGGGATGGGGAAGGTTCTCTTAGGGGCC TAGCCTCTCTCTGACCCCTGTGTCCCCCCCAGCTTCTCCCACCTGTCTGGGAGAGCGTTA CCTATGGGATGGTCCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGT CCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCCCTGCTGG GCTCAGCCAAGGAGGAGGTAACCGGGTGGGGAGGAGAGGATAGCGGGCCAATCTACACCT GCCTCATGCCAGGACCCTCTCCTGTCCCTGCCCACTCCCAACCCATGGCTCCTCTCTCTT CCTGCCAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCT ACTCAGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAG AAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATG CCCCTAAGCTGTGAGTTCCTGCCTTTGCACCTGCAAGTCCTTTCTCTGAGCCTCAATTTC CTCATTTGTTAAGAGGGACACAGGTGATGTGCTTGCTGGCAGGGTTGCTGGAACTAATTG AGAACACTGCCCTTAGCCCTGGTGGGCTGGGAACTGGGAAGCCCCACTCCCTGCACCCTG ACTCCCATTCCTCCCTCCCCTAGGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGC CCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTG AGAGAAGAGGTGAGAATGGGGGAGGAGGGCGTCCCTGCTAGCAGGGGGTGTTGACTTCCC TGTCCCTTCCTCTTTGTCTCCCTCCAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAA CAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTGTACGTAATGTTGTCACTCGGGGTGG GGGGTTGTCCCAAGGAGCAGAGAAAAGAACTCAAGATGTGGAGTATGGAGATCCAAGTTC AAGTCCCAGATCTGGCACTCCTAGCTGTGTGAACTTGGATACATTCCTTGACCTCTCTGA ACCTTTGTCTTTAGAATGGGGATTAATTTTCTCAGCCCCACTGATCTCTCCAGGGTTTAT GAAGATTAAGAGTGTCAACAGCTGAGGAAGTACTTTGTGCAAACTATAAAGAGCTATACA GAAATTGTGGGTCTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACAGTTTGGGA GGCTGAGGCCGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAACCAACTTAGAG AAACCCTATCTCTACTAAAAATACAAAAATTAGCCAGATGCAGTGGCACAAGCCTGTAGT CCCAGCTCCTTGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGACAGAGTTTGCA GTGAGCCTAGATCACGCCACTGCACCCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAGGTGGGTCTCCTCCAAGCCTGTCTTCTCTTATTTGGGGCAGGCAAGAGG GAGCCATGAGCTGCCAGAGACCAGGCACCCAGGGCTGGGACAGTTCAGAGTCATGCACGG GGCAGTGGCTGTGCCTGGCATCGTCCTAGGCACTGTGTGTTTATGAAGATGAGTGAGGAG CAGTGTTTGTGCCTGAGGAGTTCAAGTGTAGCTGGTGAGATGCAAACGCAAAGTGGCAAC AGCTGAACTCCTGCTGTTCCCTTTACCCCAGAACTGACCTTCCTTCCTGCTGGGTTCTGC AACTCCCTGAATGGCCCCACTGGTCCCCAGGCTACTGGAGTAGGAACCAGTCCCCAAGCT CTGTTGCTTTTACCTCCTAGGAATGGCTTAAGTCTTTTTCCCCCTCCCCACTCGGGCTGC CTCTAGCCCAAGATACCTCTTAACTGGTCGCACTGCCTCTACTCGCGCCCTACCAGGAAC TTCTGCACACAGCCTTAATGAGTTTTCTAAAACCAAACCTGGCCAGGTGCAGGGGCTCCC ACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAATTC TGGGCTGTAGTACACTATGCCGACAGGGTCAGTATGGTCCAGGGAGTGGAGTACCACTGG GTTGCCTGAGGAGGGGTGAACTGGCTCAGGTCAGAAACAGAGCAGGTCAAAACTCCCATG CTGATCAGTAATAGGATCGCACCTATGAATAGCCACTGTACTCCAGCCCCAGCCTGGGAA CCTGGCAAGACCTCATTTTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTCTTTTCTTTCTTTTCTTCCTTCTCTCTCTCTCTCTCTCTCTCTTTCTT TCTTTTTTTTTTTGAGATGGAGTACAGTGTTGCAGTCTTGGCTCACTGCAACCCCTGCCT CCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACTGGTGTGTG CCATCACGCCTGGCAAATTTTTTTTTTTTTTTTTTTTTGACGGAGTCTCACTGTCGCCCA GCTAGAGCAATGTCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATT CTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCTACCGTGCCCAGCTAA TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAATTCC TGACCTCAAGTGATCCTCCCGCCTTGGCCTCCCGCAGTGCTAGGATTACAGGTGTGAGCC ACCACGCCCGGCCAAGACCGCATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG AAGGAGGCTCCCTCTGTAACCCAGGCTGGAGTGCAGTGGTGTGGTCTTTGCTCACTGCAA CCTCCACCTCCCGAGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATGCGCCACCATGCACAGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCA TGTTGGGCAAGCTGGTGTTGAAATCCTGACCTCAAGCGATCCATCCCCCTCAGCCTCCCA AAGCGCTGAGATTACAGGCATGAGCCACTGTGCCTGTCCCAAGACCTCATTTCTTAAAAA ACAAGTAGCCGGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCA GGTGGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAACTGGGCGTGGTGGCGCATGCCTGTAATCCCAAGTACT CGGGAGGCTGAGGCAGGAAAATCGCTTGGACTCGGGCGGCAGTTACAGTGAGCCAAGATT GCACTATTGCACTCCTGCCTGGACGACAGAGATTCGGTCTCAAATAAATAAATAAATAAA CCAACAAACCCAAGTCTGACCACGTCATTACTGTGCCTAAAACTCCCAAATAGCTTTCCA TTGGCCAAAGGATAAACCCCACCCCCTTGCCCACTACTGTGGTCTGGCCTGTGTGCACTG TTCTGGGCCCTCCCCGTCCCAGTGTCTTATGATGGCCTCTGGGCCTTTCCAGTCAGCTTG GACCCATGTTTTTCCTTCTTTGCCTGGGTGAGCTTCACTTGCCCTGTGGTCTTAGCTTAG TGGTTCCTTTTTCCAGGAATCCTTCCTTACCTTGCAGGTCGGGTTGGGTGCTGTAGCTGT GATGCCCCTGCCCTGTACACCCTTGACATTTGCCCATCATGGCCTGTATGATGTGTGACT GTGGTCTGTCTCCCCACCAACTTTACCTCAGTGTGGCGGCTGGGTCTTACTGACCACTCA CCCTGGTGCCCTGCTCAGTATCAGTCAATGAACATTTCTTGAATGGAAGACCTGAGTGAG GAATGCAAAGCCCTGCAGGACCCACTGGCACAGCGCAGCAGCCGAGGGTGGGGGAGACAG AGGCATCTGGGAGGGCCAGAGCTGGTCCCTGAAGGCCAGGGGAGCCAGGGCTGACCTGTC CTCTGCCCTCCCCAGCGGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGC TCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGC TGAAGCTGCAGCAGCGCTGCCGGATGGTGAGTCGGGTGTGTGTGGAACCCTCTTGTCGTG GCCCCATGGGACCCTAGCTTCCTTCTTCCTGCCTCCACTCGGCTCCACCAGGCCTGAGGT CCCTTTCTGTGTCAGAGTCAGAGACCTCAGAGAGCCCCTTATCTTGACCCCTTGTTATCT TGAGGAGACCAAGGCCCAGAGAGGGTCCTGGAGTCTTCTAGGAACCAGGCTGCGTGACTC CCCTGCCTTCTTTGCCCTCCTTCCGTGTGACTTGTCATTTCATGGGCTGCCAAGGACTCA CTGATGTGCCTGGGAAGACTTGCTGGAAGCAGGGGGTGCCCTGAGTGGGTAGGCCTCAGA TGGGGGTTCACTGGTTTTGGGTCCTTCCAGTATGGGGCTGAGACTGAAAAGTTGCAGAAG CAGCTGGCTTCGGAGAAGGAAATCCAGATGCAGCTCCAGGAAGAGGTGAGTCTCGCTGCC GGCTTCTGCCCCCACCCTGGAGAGCCGCTGGCCCAGAGTGGGGACCCCAGGCCCTTGGCA GCTACCTGACTCTGGAGAGGACTAGCAGGAACTGAGTCTTGTCCGTTTCCACCCCCTCCA TGCCTGGCACAGCCCAGCAGGTGACAGTTCCATCAAGGTCTGAGTGGTGTGGAGTGCAGG GACCTGCCCTGGGTCCCCCACATGACACTTGGAGTCCAGAACCTGGGCCTCTGGCCTCAG CCTGAGAGCAGATAGGCAGGAGTGCTGGACTGGGTGTGCCTGGGTCCCAGCAGAGCGTGT GGGTGGGTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGTGGGGGCATGCTGA TTGAGATGCAGGAGGAGGTGAAGACCCTCCGCCAGCAACCCCCAGTGTCCACTGGGTCTG CCACCCATTACCCATACAGCGTGCCTCTGGTGAGGACCCTCCCCTGGCTGCCCACTTTCC TACGTCTGTGCCTGTGTCTCAGCCTTGGTGGCTGATTGAGATCCCAGTTCCCTTCTGTGC CTGAGCCTATGGGTGGGGGTTCTGTGGGGGTCCTCTGGTAACGTCTGTTCTCTCCACCAT AGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAAGGA GGATGATCTCAGACCCTGTGTATTTTATGGAGAGGTGCGTGGCTGGGGCCCTCCCTTGCC CCATAGGCCATGGCCTTTCCTGTAGTGGGGAGGGGGTTTGCCCTCACACTCTGACCTTCC ACGCTTCCCTATACCCGCCTCGTTCACTGCATCAGCCCCTCCACTCATTGCTTCTCTATG AATATGGACCCATCACTTCCCCCTGAGGTATTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAAGCTGGAGTGCAATGGTATGATCTTGGCTCACTGCAACCTCTGCCTCCCA GGTTCAAGCAATTCTCCTGCTTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGTGCCAT CACGCCCGGCTACTTTTTGTATTTTTAGTAGAGACACAGTTTCACCCTGTTGGCCAGGCT GGTCTCAAGCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCATGCCCAGCCTGAGGTTTTTTTTTTTTTTTGAGACGAGTCTCAC TCTGTCACCTGGACTGGAGTGCAGTGGCGAGATCTTGGCTCACTGCAACCTCCATCTCCT GGGTTCAAGCGAGTCTCCTGCCTCAGCCTTCCAAGTAGTTGGGACTACAGGCACGAGCCT GGCTAATTTTTTTTTTGTTTTTTGAGATGGAGTCTTGTTTTGTTGTCCAGGTTGGCGTGA TCTCGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTACCTCAGCCTCCT GAGTAGCTGGGACTACAGGTGGCCATCACCACGCCCGGCTAATTTTTGTATTTTTAGTAG AGATGGGCCAGTAGAGATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTTGTGATCCACC CGCCTGGGCCTCTCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCACCTGGCCAAGCCC AGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTTACCATGTTGGCTAGGCTGGTCTTG AACTCCTGACCTCAGGTGACCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCTCATGGCCACTACCTAAGGTTCTTCAGCTTGACCAAGCCCCAGGGACTG CAGTTTCGGCTTCCATTGTCTCATAATGAAGGTCCTTTTCTCTTTGAAGGAATTATGAGA TGCCCAGAGGGGACACATCCAGCCTAAGGTAAGCCTGCCAGGGGCTCCCCTACAACCTGC CCTCAGCTTTCAGCAGCCAGACAGCCCACCTGCCTCTGGTTCTGCCACCCTGCAACTCCG GAGAAGGCCCTGCTATCTCGGCTGGCTGAACTGAGAACTGTTCTGGGAAGGAGCTGCCCC ACTTTTCCTTCAAATCTTGCCCCCTGGGTGGCCGTCTGATTCCAGGCAGCTCTGAGTGGG GACTGAAGCTTTCTTTTCAACTGACTATGGGCTGAGAGGTGACAGGCACTGGCTTAGGAG CTGGGAACACCTGGGACTAAGGCCCAGCGTGGTCCCTTTCCTGACTGTGTGTCCTTGGGC AAGTCATTTGACCTGTCTGAGCCTGTCTAGAATGGATTTGTTCCTATGGCAAGTAGCTGT GGGGTGGGCTATGAAGGTTAAATCATGCAGGAGGGAGGCAGAAGTGGGTGTTAACCCTGT TGGTGTATTCCGTGCAGGGTCAGGGACATAAAAGAAGATGGGGCCTATGCAGTGTTGGTG ACCATTCTTCCTCCCTCCCACCAGGGGGATGGGCTGGGTATTTGAAGCCTTGGAGCTGGT ACCTAGCTCCCCTCTCCCCTGGCTGGGACAGAACCAGGAGGAACCATCAGGATCTGTGTG GAGACGGGTGGGGGTGGGCCTGGGGGGTTGGACTTTCCAGCCCCTCAAAAGATGTCGCTA TCTCCCGCCCAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGA GGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGC GGAGGAGTTCGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGG GGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACT GGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCGGCTT GGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGC CCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGC CCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGAAAAGAGAGGGTGGA TAAGCTCCCCGAGTGCTCACCTGCCCCAGCCTGGCTCTACCTGCTGTGCTTATTTGCATG GACTTTGCATATCATTTGCATAGACACCTCTGATCCCCTTCAGTGGGAACCGTAGTGTCA GTGCTCATTTATGTGGCATTTGCTTAGGATTCCAGATCTCCATCCACTTTTCTCCTGGGG GCTGGGCTGGGGGTTAGGGCTGGGACTGTGCCCCCACACTGCGCCTCAGCTTCCCATCTC TGCCCGCTTGCTTCCCCTGCCCCCAACCCCTGCCTCCTCTATCCCCCAGGCTCTCCAACT CTGCAGCAGTGGCAGCAGCAGTCAAAACAAACACGGGGGGCGGTGGGTGGGATGGTGGAG CAGCCCGGGGGCTGACCCAGGCTGGAGGACAGGGCCAGCCACCCTCCCACGGCCTGGGAG GAAGAGAGGCCTTCTGGGACTGCCCAGGCTATGGGGACAAAGGCCTTCACCAGCAAGGGC CACAGTTGGAACAGTCCCCTGGGTGTCAGAAGGTGGGCTAGGGCCTCCTGCAGGGTTGTG GGGTGGAACAGGGTCTCCTCTCCCCAGCCAGAAACCCCAAAGTCTGGGAGCTGCACCTTC CGAGTGCAGGCCATGTGAGCCCTGCCTCTTTAAGGAGCCGCAGGACATGAAAGATGACCT TGTGACACTCATGCACAGCAGCCATTGCACGTGCATCAGCTCCCATCAGCCTCATTCCGT GGCAGGTGATGTGTCCCCATTGGTTAGGTGAGGAGGGTGAGGCTCAGAGAGCTAAGGACA CTTGTTTGGGGCCACACAGCCGGGGTAGATCTGAGCCCGTCCTCTCTACTCCTGTGCTGT AGCACCTTCACTGGCCCATCCCTCCCCTCTAGTGCTGTCCTGGTACCCGTCCCAGCCTGT CCCCATTCTCATGGCCCTTTGGTCACTGCCGGGTGGAATAGCACTGGCTTCAGCAGGCGT GTCATGTAAGCTTGTGCAGGTTATAAACTGAACCATGACCTTTATGGCGCATGCAGGGGG CAACCTGCATAATTATCAATGGCGACTTTCCGTGTCCTTCTGATACAGTTGATCAGACCC CTGCCCACCGCCCAGGCCAGGCCTGTGGTCATCAATGCCCCAGTTCACATCCACCTGCTT CTCTTCCAGGCTTTGCTGTTCCCCAGCAGCCTGCAGAGGCCCCACAGACAGCTTGAGGCC CCTCCTTCTGCTGCCTGGCCAAGCCCCACACCCGCAGACCCTCCTTCCCATCCTCTGAAA TGGGACCCTGTGTCTGTCACCAGCCCACCCTCTGTGTTCATGAACCTGGGCTGGAGCTTG GGGACCCCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACATGTTGGAG GCTTTTCCAACGTCTTCAGGGACAGGCGGTAGGAACCCCGGCCCTCGCTCTGCAGCTGGT GCAAAAGCTGTGGCTGCCAGGTCTGGGCCACATGGCAGCCCAGGGGGCAGGAGAAGCCCG GGAGAGGCCCACTGGCTACCAGACTCAGCCCTGAGCAGGGAACAGGGCCCAGCTTCCACC GGCAGGGAGTTGTGAGCGCCTTCCCAACAATGTGCCCCTCACCCCTTGATGCCCATGCTA ATGGTAGCCACCCTGGTTCTTGTTGACTTGAGGGACCTGGCTGTCTTCCCTGTTCTTCAT CCTTTCTTCTCAGTCCCTACCTACTGTTTGTAACCACAAGTGTCTCTGTGTGTGGGTGGG TGAGGGCCCCTCTGCCCAGTGGTGTGTCTCCTCTCCCTCCCTCCCTCTTCTGCCAGTGGC CTGGGGGTGTCCAGGCTCCCATCCGTGGCCCAGCCCCTCTCCCCTCTGTCTTGATCCCCC CCTCCCTGCCCCTGGCTTCCTCTTCCATGTTCTGCCCTTTCCCACACCTTTGTTCCTCAA TAGCTGGGGGCTGGGACTGAGGCCTCCTGCAGGTACCTGCCCCCCTTCACACAGCACCTC TCAATCTCCTATTGCTTGTCAGCCTGTGTGCGTGTGGTGCAGGAAATAAAGGATCTATAC CCTCCTGG OMIM ID 600947