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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 6448 Official gene symbol SGSH Full name N-sulfoglucosamine sulfohydrolase Aliases ,HSS,MPS3A,SFMD, Gene summary This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq] Location Chromosome: 17   Locus: 17q25.3 Gene position 78194199 - 78183079  Map Viewer Gene orientation minus Gene size 11121 bp Gene sequence >SGSH:complement(43457231..43468351):Length=11121 GACCGGGGTCGGGGCAGGGGGCGGGGCCGAGCGGGAGACCAGAGAGCCGGAGCCGGATCC CGATCCCGAGTCCGAGCCGCCGCCGCCATGAGCTGCCCCGTGCCCGCCTGCTGCGCGCTG CTGCTAGTCCTGGGGCTCTGCCGGGCGCGTCCCCGGAACGCACTGCTGCTCCTCGGTGAG TGCCGGCGCCGCCCCCCCACGCCCACCTGCGGTGGCCCGGGGAAGTGGCCACTGGCCTCC TCCCCACCCGTGGTCAATGCTGACCCTAGTGTGCCCTGCCCTTGTATCCCCCGCTGCCAT TCCCTCTCGTCCTCCTCTCTGTGCCGCCCCCAGACTCTTCACGGGTGTCTCCCCAGAGAG GGCAGCAAAGGCTGGAGGAGTGAGCCCCAGCATCCAGCACCCCTACACTTACCTCGTGCC GCCTGTCCCACCCTCCTCTGACCCTGCCCAGCCAGGGCTCAGGGGTCCACGGATCTCAAA TCCCTCTTGGGAGGGGATCCCAGAGGAGGGGCTGGTGCTCCGGTCCCCAGAGACTGCAGA CAGGGTGCCCTCCTGGCTCTCATTTCCGACCCCAGAGCCTGTGTCTCAGCTGTCTTTTCC CTTATCCCAAGGGCACAGCCCTCCACCACCCACCCACCACCGTCTCCCCCAACCCCAGTC CCTCTCAGAAACCCCAGGTTCCTCCAGAGCAAGCACCGTGCTGCTCACAAGACTTCCGGT TTAGGTAATCAAGGCTCTGGCTCATGACAAGTGACAAGGCCAAACCCAAGGCCTGCGATT CTTTCCCCTTCTGAGGTCTGGCGCCCTGCCAGTTGCCCTCTTTCTGATTAATTTTGTGGT CTCTGGGCGGGGGTTCGGCTCACTGTAACATAAACAGCTCTCCTGCCAACTCCTCGCCTC CCAGAAACACAGCAGAGAATCTGCATGGACCCTCACCTGCGGATCAGAATTCCTACAGGA GGCTGTCAGAGTCCAGGCTATGCGGCCCCTGGGCTAGGGCCTTTCTTAGCACGGACTGCC ATGGATCGGCTTAAACAGAAATGTATTTCTCACAGTTCTGTGGGCTGAAAATCCAAGGTC AGGGTGCCAGCTTGGTTGGGTTCCAGTGAGGGTCCACTTTCGGCTTACAGGTGGTCACCC TCTCACTGTTTCCTCACATGACAAGCGGATGGGGGTGGTCTCACTTCCTTTTCCTTTCTT TTTCCTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGGGTCTCACTCTG TCACCCAGGCTGGAGCACAGTAGCACAATCACAGCTCACTGCAGCCTCAATCTCCCAGGC TCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCTCAAGTGCACATCACCAT GCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCCAGACTGGT CTCGAACTCCTGGGCTCAAGCAATCTTCCTGCCTTGGCCTCCCGGGTGCTGGGCTTACGG GCATGAAACACTGCACCCGGCCCTCTCTTTCTTTTCCTTTAAGTCCACAGTCCTGTCAGA TCAGGATCTCATCCTTATGATTCATTTACCCTTAATTAAGGACCCTGTCTCCAGATACAG TGATGTTGACGTTAGGGCTTCAGCATATGAATTCTGGGAGGACACAGTTCAGACCATAGC AGGCCCACAGCCAAGTGCCGAGACACTCTGGGTTTGGAGAAGGGCAGCTTTCTTCCTGGC CTGCGGGTACGGAGCACAGCCCATCCCGCTCTCCCTCCAGGTTTACGTGGCTGCCATGTG CTCACACCTGTGGGTACTGTGGGGTGGAGGATGGAAGCCCAACTGGAAGGTGCCCAGCCT CCTCTGTCCATCCATGGACCACATTGCCTCTGAGGGAGCTGGGGAAAGTGTTGGTCTGGG GGTTCCCACCAGCCTCTCCTGTGGTGCCCCCAGTGTCCTCTACTCCAGAGCAGGGGGAAG AAGCTTGGTGTGGTTGTAGGAGTTCAGCGGCCTGTCCCTGTTTCCTGCTGCCCAGTGTGT GGCCCTGGGCACTGCACCTCACCTTTCTGGGCCTCAGCTGCTTTGTGTAGGATGAAAGGG TTGAAATAGACAACCTGCAAGGTCACTAGGCCTTTGAGATGGCATCAGTGAGAAGCAGCG GTGGGACGCACACACATAGAGCTTTAGACGCGCCCTGGGCGAGGCTCTCCTGCCCTCTGC CCCATGCGGTTTCCGCTGAGCCCAGAATTGCCCAGCAGTTCTGTGGCCATGCGCTCAGCC GCTGTCTGCCTAAATGCCTAGCCGGCTAACACGCCCACCCAGGTAGCATGCCTGCTGGGG TATCATCAAGCTTGTTGGGTCATCATGCCTGCATGAGTATCTTGCCCACTTGGGTACCAT GCCTGCCTGCTAACATGCCTATGCAGGTACCAGGCTTGCCTGGGTACCATGCCCATCTGC TTATACCCACCAGCTATCAGTCCAGCCTGTGTACCATGCCCACCTGCCAACATACCCACC GGGTATCATGCCTGCTTAGGGTATCATCAAGCTTATTGTGGTATGATGCCTGCTTATCAT GCCCACTTGGATACCATGCCTGCCTGCTAACATACCAACCACGCATCATCCCTGCTGGAT ACCAGTCTACCTGCTAACATACCCACTGGTATCAGGCCTGCCTGGGTACCATGCCTACCT GCTTATACCCACCATCTATCAGTCCAGCCTCCATACCATGCTCACCTGCCAACATACCCA CCATCTATCAATCAGTCCAGCCTCCATACCATGCTCACCTGCCAACATACCCACTGGGTA TCAGGCCTGCCTGGGCACCCTGCCTGCTTGCTGATATACCCACCAGGTATTGTGCCTACT AGGTACCATGCCTTCTTGCTAACATACCCAGTGGGTATGGGGTCTTCTGGATACATGCCT GCCTGCTAACATACCCACCAAGTATGAGACCTGCTAACATGCCCTCTGATACCATGCTTG CCTGATGTACCCACTCGGGTGTCATGCCTCCTAGGTAATGGAGTGCTCTGTCACGATAGC ATTTCGCGCTGAGTGTTCACACTGAGCCAGTACCATGCCCACCTGGGTGTCTCGCCTTCT GGCATCACAGTCCCAGCCTCCCTCACTCCCAGTGCTGTTTCTCGTGACCGCAGCCGACCG TGCACTCTCTGTCTCCCACCTCACGCAGCGGATGACGGAGGCTTTGAGAGTGGCGCGTAC AACAACAGCGCCATCGCCACCCCGCACCTGGACGCCTTGGCCCGCCGCAGCCTCCTCTTT CGCAATGCCTTCACCTCGGTCAGCAGCTGCTCTCCCAGCCGCGCCAGCCTCCTCACTGGC CTGCCCCAGGTGAGGTGCAAGGGGCGGGAGGAGGGGGTGGGCAGGGAGTAGACAGGCTGC GTCCGGGGCCCAGGCCTCTGCCACGTCTCCCATCCCTGGGATCCCGGGGGGTGTTGCCCA CTTTCCCTCCCACCTCCAGGAGGAGGCACAGCCTATGGCTGTGAGTGCAGACTAGGGGCT CCGACTCACCCGCCAGCCCTGGCTGCACTGCTGTGTGTGGCCTTGAGCAAGTCACCTACC TCCTTGTGCCTCAGTTTCCTCATCTGTAAGATGGTGGGTGTAATGAGATGCCACTCTAGT TATGGAGATTGGCGGGGCTAATGCTTTGTATGTAAACACTTAGTGCGAGGCCTGGTGGGC TCACTCAGCGTGAACCGCCATGGCCACAGTGTCCCAGGAACGCCATGGTGCAGGGAGCGG ACACCGTTAAGGCACACATGCTCCTATTTTACTGTGGTAAAATGCACAAACATCAACATT CCCATCTTAGCCATTTTTCAGCGCACAGTTCCGGGGCATTAAGTGCATTCACAGTGTTAT GCAGCCATCACCACCATCCATCTCCAGAACTTTTCCATCTACCCAAACAGAAGCTCTGTC CCATGAAACACCAGCTCCACATTCTCCCTCCCCATCCCCTGTCTCTATGAATCTGACTGC TCCAGGGGCCACATAAGAGTGGAATCACACAGGACTAGTCCTTTTTTTTTTTGAGTTGGA GTCTCACTCTGTCACCCAGGCTGGAGTGCTGTGGTGCGATCGTGGCTCACTGCAGCCTCT GCCTCCCCGGTTCCAGCGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTG CGCGCCACCACGCCTGTCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTG GTCAGGCTGGTTTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTCGACCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCCCCCTTTTGTGTCCTTACTTCACTCA GCACAATGTCCTCAGGGTTAACCATATGCTGTAGCACGAGTCAGAACTTCCCTCCTCTTC AGGGCTGACTCATATTCCAGTGGATGGATGGGCCCCGTATTTTGCTTCTCCATATTCATC CGTCAGTGGGCACTTGGGTTGCTGCTACCCTTTGGCTGTTGTGAATAAAGCTGCTATGAA CATGGGTGTTTAAGGACACTTGTTCTTTTAGTCTCACTCTGTTGCCCAGGCTGGAGTGCA GTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGATTCAAGCCATTCTCCTACCT CGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTAT TTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCGT GATCCACCTGCGTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGG CCGGCAGTCTGAGTTTTTAAAATGTACACATCTTTTACAATATAAAATAACTAGGTAATA AAACAAGGCCTGACCCTGTCTTTTTCACTCTGTAACGTGTGATCATAACAGAAGAGTTCA AAAGTACGGATACGCAAAAAGAACATCAAGGCCACCCTCGTGTCGGTGCACGCCCTGCAG GTCCCCTTCTTTCTGGCGAAGTCCTCCTTTCACGGGAGGGACCCATGGGCCTATCGGGCA GGGAGTGGGAGGTACAGCCAGTGTCTCTGGGTGCTGGCCACTCGAAGTCTAAATCAGGGC CCCGAGAAGGCCCCTGGGGATGGGAGGGCCGTGGGAGAACAGGTGCGGCAGGCGGGCTCT GGCTGTCCGGGGGCCCCGGACCTCATGCGCCTTTGCTGGCAGCATCAGAATGGGATGTAC GGGCTGCACCAGGACGTGCACCACTTCAACTCCTTCGACAAGGTGCGGAGCCTGCCGCTG CTGCTCAGCCAAGCTGGTGTGCGCACAGGTGAGGACCCCGTGCCGAGGACAGGGCGTGGG GTGAGGCACAGAGGCCAGGCCAGAGCCCAGGAGGTTCGGCACCTTGTACCAAGGCACGCT CAGCCCCCGTGGCCTGCCCTTAGCTCTTGTCCCAAAGGATCTGGGCCTGGGTCTCCTGGC TGGGCTGTGTGTCCACGAGAACCCACAGTGCGCTTAGGGCCGAGAGGGGCAGAGAAGGGA GCAGAAAGGGTTGGGAGGCTGAAGGGACTCTGGCCAGGCCTCTCTTCCCGCCCAGGCATC ATCGGGAAGAAGCACGTGGGGCCGGAGACCGTGTACCCGTTTGACTTTGCGTACACGGAG GAGAATGGCTCCGTCCTCCAGGTGGGGCGGAACATCACTAGAATTAAGCTGCTCGTCCGG AAATTCCTGCAGACTCAGGATGACCGGTATGAGTCGGGGCCCCTGCCCCTTCCCCCTGGC GGCCGGTACCAGAGCACAGCCCGGAGTCTTCCGGCGGGATGCATGGGCCCCCACGTGGCT CGAATGGGGGCAGGGGAGAAGGTTCCAGGTACTCGAGTTAGCCTGGTCAGAGGGAGAAGG GACGTGGGGAAACTGAGGCAGTGAGGGTCACAGGTTGACTTCCAGATACAGAGGAGGAGG CAGAGCCGAGGGGCTTCCTGTGCCACGTGGCAGTGGCCCCGCAGCCTTGGCAATGAGCCT CCTCCCGTGCAGGCCTTTCTTCCTCTACGTCGCCTTCCACGACCCCCACCGCTGTGGGCA CTCCCAGCCCCAGTACGGAACCTTCTGTGAGAAGTTTGGCAACGGAGAGAGCGGCATGGG TCGTATCCCAGACTGGACCCCCCAGGCCTACGACCCACTGGACGTGCTGGTAGGACGGCC CCTCCTGTGTTTCAGGACGCCCGTCAGCCCTGGGTCGGGGACCCTGGCCTCCTACGAGCT TGCAGCCCTGGCCCTAGATGATGAAGAAAGAGGCTCTGACCAAATCGGATTCAGGTTCCC AACCTCGGGGCCACAGAGAGAACCGTAGAGAGACGGGGTGGTCCGGAGTGAGGCTGTTCT GGGCTAACCCATTTGCAGGAGGCCCCGGGGAGAAGGCTGGACACCGCTCCCCCGGTCTGT CTGTTCTAAGCCTGGCTCCCCACCGCCTGCCCCAGGTGCCTTACTTCGTCCCCAACACCC CGGCAGCCCGAGCCGACCTGGCCGCTCAGTACACCACCGTCGGCCGCATGGACCAAGGTG GGCTTGCAGAACCGGGCACTGGAGGGGGTGCCACGGCCGGGGTCCCCCATCCTGGGCCAG CGCCCTCTTAGGTCACGGCATAATGTGGGTGAGGGTCCCAGTGTGGCAGGCCCTGTGCTG CAGCTGGCAGAGCCCACATTGAGAGGAGGGGCCTGTGGGTGGCATCAGGACCCAACCCCG GGGCTGCCCTGATGTGGACCTGCTCCTGGGCTGGGGCCTTCGGGTGCCCCAGAGGTTGCG TGAAGACTTCAGATATTTCCAGTCACAGGACCTGGGTCAGATTTGGGGGTTTGGAGTTCC TTAGCATATGCAGATGGAGATCTTGAGGTCTGTGAGTTTTTTGTGGTTGATGGCTTACAG CAACCAAAATTTGTACTCCCACAGTTCAGGAGGCCAGAAGTTTGAAATCAAGGTGTCAGC AGGGCCATGCTCCCCTGAAGGCCTAGGGGAGACCCTGCCTTTCCTCTTCCAACTTCTGGG GGCTGTGCCAGTGCTGGGCGTTCCTGGGCTGGCGGCAGAATCGCCCCCATCCCCGCTGAA GCCTTCACATGGCCTTTTTTCCTGTGTCTCCTCTTTGTGTCTCCACTTCTTCTTTTTTTT TTTTTTTGAGACTGAGTCTTGCTCTGTCACCCACGCGGGAGTGCAGTGGCGCAATCTCGG CTCACTACAACCACCACCTCCCAGGTTCGAGCGATTTTTCTGTCTCAGCCTCCAAAGTAG CTAGGACTGCAATCGCACCGCACGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGA GACGGGGTTTCACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCA CCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCCGGCCTGTTTCCG CTTCTTATAAGGACCCCGTCGGGTTTAGGGCCTACCTGAGCACTTCAGGATGATTTTGTC CCAAGATCTTTATTCGTGAAGTTCCCCTTTCCAAACAAGAACCCCTTCACAGATTCCAGC ACACATGTCTTTTGGGGTCAGGGACGACAGGAGGTCAGGACCTTTGCCATTTCCCTATTG GTGCCATTAATTCTTAGTGAGCTGGGAAGGAGCGGGTATAGAGGAAGCCTTGTCCTCTGG CCCCAGCTGGGAAGGAGCGAGTATAGAGGAAGCCTCGTCCTCTGGCCCCTGCCCTATTTG CTCCATGGGACAGACACGAGATTCCGGAGAACTCAAAAGCCGGCGGGCACCAGGGAGCAG CTGCCTGGGGGTGACACAGAAGTGCCAAGGGATGGCTGGAGTCCCTGGAGGCCCATTCGA GGCCTGCTCAGGGAATGGGAGCTGGGCGGAGCTGGGCAAGAGCTGGGCAAGAGCCAGGGC CATTGGGAAGAACTACAGGGTGCTTTCGAATCCGGAAAGCGCTGGAGCCCAGCGGCCGGA TGCAGCAGCAGGTGGGTCTACACACACCACCCGCTGCCTCCCTCCGTGTCTGCGGCTGAG CTCTGCTTCTCGGCCCCTCACCACAGGAGTTGGACTGGTGCTCCAGGAGCTGCGTGACGC CGGTGTCCTGAACGACACACTGGTGATCTTCACGTCCGACAACGGGATCCCCTTCCCCAG CGGCAGGACCAACCTGTACTGGCCGGGCACTGCTGAACCCTTACTGGTGTCATCCCCGGA GCACCCAAAACGCTGGGGCCAAGTCAGCGAGGCCTACGTGAGCCTCCTAGGTATGCCTTT GTCTGTCTCCGTCAGGAAAGGTGTGGGAGTGGATCTGGGACGGGGCCATGACCTGTCAGA TGCTGCTCCACACCCATTACCTAATGTGGCTCTCATATCATCTGGGTGAGGAAGGGACTG TCACTCCCACTCTACAGAGGAAAAGAATGAGGCTCAGAGAGGTGAAGTAAGCTGCTCAGG ATTGCACAGCTGGTAAGCACTAAGCTAGGATTCTCGCCTGGATCCTGCTGCTTTCAAAAC CATTGCCTTTTCCCCGCCTACCTCCGATGAGCTTCAGAATCACCTGGGATGCTTGTTAAT ATCCAAATTGCAAATCCCAGGGTGTCCGATTCAGTAGATCTTGGCGGGCTCAAGAATTTG CATGTCTGACAAGTTCCCAGGTGATGCCGATACTGTGGGCCTGGGGACCCCTCTCTGAGC ATCCGTGCACCCCATCCTGCCTTCCTGGGGGACCCAAAGCACCTCATGACCCTGCTCATT CCTAAAAAGACCTAGGACATCTAGTCCCATGTTATGGATGTGCAGACAAAGACACGGGTG CAGGAAGACTTTGTGAGGGGCTCGGGGTGACCCCTTCGGCACAGGGCAGAGGCTCGTGTG TCCTGCCCACTGCCTGGCAGAGCCTCCAGGTGGGGTGGGCCCGGGACAGCAGGAAACTCA GGTTCCCTTTCCCTCCGAGCTCGCGGCCCACATCTCTCTTGGGGCCCACATCTCTCTCTG GCCCCAAATGATGAGCCAGGAGCACTGTGGCCACACCCACCACAGGGGCTGGAGTACACG AGCTACCAAAAAGGAGACTTCTTTTCCAGTCCATGGGATTTTAGAAGGATCCTAAATGTC ACCGAATCAGGGCCTCTTGTTATACCATTCAAGGCACTGAGGCCCAGAGAGATGACGTGG CGGTGAGAGGTGTCGGCTCGACAAGGCACCTCCCGCTGCTGATTGGATTGGAGAAGGGAG CCGCCCAGAGTGGCGTAGGTTCGGCCCTTCCGAGGGCAGCTCCTGTGTGCTGAGGGCTCT GCTGCTCTGAGATGCCGCGTCCCTTCCAGACCTCACGCCCACCATCTTGGATTGGTTCTC GATCCCGTACCCCAGCTACGCCATCTTTGGCTCGAAGACCATCCACCTCACTGGCCGGTC CCTCCTGCCGGCGCTGGAGGCCGAGCCCCTCTGGGCCACCGTCTTTGGCAGCCAGAGCCA CCACGAGGTCACCATGTCCTACCCCATGCGCTCCGTGCAGCACCGGCACTTCCGCCTCGT GCACAACCTCAACTTCAAGATGCCCTTTCCCATCGACCAGGACTTCTACGTCTCACCCAC CTTCCAGGACCTCCTGAACCGCACCACAGCTGGTCAGCCCACGGGCTGGTACAAGGACCT CCGTCATTACTACTACCGGGCGCGCTGGGAGCTCTACGACCGGAGCCGGGACCCCCACGA GACCCAGAACCTGGCCACCGACCCGCGCTTTGCTCAGCTTCTGGAGATGCTTCGGGACCA GCTGGCCAAGTGGCAGTGGGAGACCCACGACCCCTGGGTGTGCGCCCCCGACGGCGTCCT GGAGGAGAAGCTCTCTCCCCAGTGCCAGCCCCTCCACAATGAGCTGTGACCATCCCAGGA GGCCTGTGCACACATCCCAGGCATGTCCCAGACACATCCCACACGTGTCCGTGTGGCCGG CCAGCCTGGGGAGTAGTGGCAACAGCCCTTCCGTCCACACTCCCATCCAAGGAGGGTTCT TCCTTCCTGTGGGGTCACTCTTGCCATTGCCTGGAGGGGGACCAGAGCATGTGACCAGAG CATGTGCCCAGCCCCTCCACCACCAGGGGCACTGCCGTCATGGCAGGGGACACAGTTGTC CTTGTGTCTGAACCATGTCCCAGCACGGGAATTCTAGACATACGTGGTCTGCGGACAGGG CAGCGCCCCCAGCCCATGACAAGGGAGTCTTGTTTTCTGGCTTGGTTTGGGGACCTGCAA ATGGGAGGCCTGAGGCCCTCTTCAGGCTTTGGCAGCCACAGATACTTCTGAACCCTTCAC AGAGAGCAGGCAGGGGCTTCGGTGCCGCGTGGGCAGTACGCAGGTCCCACCGACACTCAC CTGGGAGCACGGCGCCTGGCTCTTACCAGCGTCTGGCCTAGAGGAAGCCTTTGAGCGACC TTTGGGCAGGTTTCTGCTTCTTCTGTTTTGCCCCATGGTCAAGTCCCTGTTCCCCAGGCA GGTTTCAGCTGATTGGCAGCAGGCTCCCTGAGTGATGAGCTTGAACCTGTGGTGTTTCTG GGCAGAAGCTTATCTTTTTTGAGAGTGTCCGAAGATGAAGGCATGGCGATGCCCGTCCTC TGGCTTGGGTTAATTCTTCGGTGACACTGGCATTGCTGGGTGGTGATGCCCGTCCTCTGG CTTGGGTTAATTCTTCGGTGACACTGGCGTTGCTGGGTGGCAATGCCCATCCTCTGCCTT GGGTTAATTCTTCGGTGACACTGGCGTTGCTGGGTGGCGATGCCCGTCCTCTGGCTTGGG TTAATTCTTGGATGACGTCGGCGTTGCTGGGAGAATGTGCCGTTCCTGCCCTGCCTCCAC CCACCTCGGGAGCAGAAGCCCGGCCTGGACACCCCTCGGCCTGGACACCCCTCGAAGGAG AGGGCGCTTCCTTGAGTAGGTGGGCTCCCCTTGCCCTTCCCTCCCTATCACTCCATACTG GGGTGGGCTGGAGGAGGCCACAGGCCAGCTATTGTAAAAGCTTTTTATTTTAGTAAAATA TACAGAAGTTCTTTTTCTGAA OMIM ID 605270