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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SLC4A1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6521 Official gene symbol SLC4A1 Full name solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) Aliases ,AE1,BND3,CD233,DI,EMPB3,EPB3,FR,MGC116750,MGC116753,MGC126619,MGC126623,RTA1A,SW,WD,WD1,WR, Gene summary The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq] Location Chromosome: 17   Locus: 17q21-q22 Gene position 42345502 - 42325758  Map Viewer Gene orientation minus Gene size 19745 bp Gene sequence >SLC4A1:complement(7599910..7619654):Length=19745 GAACGAGTGGGAACGTAGCTGGTCGCAGAGGGCACCAGCGGCTGCAGGACTTCACCAAGG GACCCTGAGGCTCGTGAGCAGGTGGGCAGGGCAGGGAGGGGCTGGGGATGGTCCTTCGGT GCCTGCCCTGAGGGCTTCTACAGGTGCCCAGCCTGAATCTATGCCCAGGTGGGCCAGGCT CCTGACCTCCAAGGGGGTGCAGGTGGGTGGGGTGAGAATGTTACCATGCATATGTTGCCC CTAAGGGAACAGGCCCATTGGCACCTGAAAAGAGGAGGGTGGCAGGTGGTCAATGGCAGC AGAGGTATGTGTGGCTCCGGTGCGTGTGTTGCGGGGGGTATCTGATCCCCTCCAGGTATG GGCCCTTGTCAGCTTGTTGGATCCCACAGGGTCAGGTCTTGTCCACCCCAGACTCCTTCC TTCCTAATGGGGTCCTCAGACCACCCCCTCTCCCACCTAGGAGGCAGGATGTCAGCTGAC ACAGTATCCCCTTTGGGACACTTCCAGGGGTCTACCTGGGGCACCTGGCTCCACGCCCAG CGTGGTCAGTATTGGAGGGAACTGCAGAGCCTCCTACCACATGAGAATCTCAAAACACTT AGCTCAGGCTAATTCCATGGGAACTGAGGGCAAATCAGAGGGGAAATGAAGATGGCAAGT CTGACTGTAACCCCAGCAGCAAGGGATAATGACAGCAAACATTTTCATAGCGCTCCTTAT ATGCTAGGCACTGTTCTAAGCCCCTTACAAATGTAAATTTCCTTAATGCTTACAACAGGT CTATGAGATGGGCATCATTATCATCACCCCCATTTTACAGATGAGAAAACTGAGGCACAG AGAGTTGAAGTCACACGCCGTTAGTAAATGGCAGGGCTGGGCTTTGAATCCAGGCAGTCC GACTGCAGAGTCCGTGATCTTAACAACTAACTCTAAACCAGCTAACAGTTGTTTTGTTGG AGGCAACTTAGCATAGTGCTTAGGGATGTGGCTGGAGTCAGGTAGTCCAGGCTGTAACCT GGCTCTGATACCTACCTGCTGGGTGGCTGAAGCAGGTAAATGTCTCTGAACCTCAGCTTT CGCATCTGTAGAATGGATTAATGACATTACTCTTCTTCCTCTTAGAATCCCCAAACCACT TCACAGAATGCTTTGGGGATTCTAAGAGTTAAGGCAGTACAGTTCTTTGTGCAGTTCGGG CTGATTACACAAAGGTGGTGCCATACCACTAGGAAGTTGTCCCTGTCATCTGGTCAATCC CCTCTCCCGCCGTGTCTTCCCAGCTGTGCTATACCTTCTAGGCTCAGATGTCCCGCTCAC CCTTATCTGGCCTGGCCCTGGCCAGCTGGCTAGCTGGCCAGGTGTTTGGTGCACTTCCAA AACTTGGGGCAGCGATCTGGGTCCAGGCCCTTATCAGTGCTAGGCAGCACAAGGCCTGCA GCTGGGGGGCGGCCTGGCTGGCGGGTGGCAATCTGGGTCATGGGTGCGCCCTGTAAGTCT CCAACTGAGCTCAAGGCACCTCTGTTTTCCCCTCTTCTCTCTCACTGATGTCTCAGAACC CTGGCAGGAAGGCACTCCCATTGTACAGATGGGGTGACTGAGGCCTACAGGCTGGAAGCT GCCCAAGGCCCTTCAGCCAGTCAGTGGCAGAGAGGCAGCCTGGACCTCTGGATTCTGCAG CTCTGAGGGCCCCTCTGACCATTCCACTCCTCAGATAGGCAACCAAGGCCACAGTCCCAG CCCCATGGGTGGGACTTTTAGTACCTAAGGCTTAGACACCCTGGAGGCCTTAGCATCTGA GGCCTAAGAAAGTGCATGGGCAAGTCCAGAGAAGGAAGAAAGTGAATAAAGATGGAAGAG AAAGAGGAACTTTGGGAGAAGCAGAGAGGGAGGAGGAAAAAGAGAGAGAAGAGGTGGGTC ATCAGGGTCCTCAGGAGCAAAGCCAAGCCCTGCAGTAGGGACTACCTCGTCCTCAGGTCC AGGACCCCTCCCCCGCACCCCATCACTTGCCCCACCTGCCAAGGCAGGGGTCTCTCCCAT TCTCCAGTCTGGTGAGATCCAGTAATCCCCTCCCTACCCCCAGGACTGCAGGGTCACCCA TTCCTCAGAAAGAAGGCTGTTTGCACATCCCTTTCTTTCTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACC TCTGCCCCCTGGTTCAAGGGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGG CATGCGCCACCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGT TGGCCAGGCTCCCTGCCCCATGCCCTCACGTGGCATTTTCCCACCTTGCTCAGCCCACCT GTTCAGCTCCACCCAGGCATGCCTCACATCTGGACTCCCAGCCCTTCACATCTCACCAGT GCTTGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGG TGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTA CTAAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGA TCGCGCCACTGCACTCCAGACTGGGAGAGAGAGCAAGACTGTGTCTCAAAAACAAGAAAA ACTCACCTGTGTTTTTAGGCTAGCGCCAGTGACCCCTCCTCCGGTGACTCCACCCCCGAG TGCTGCAAACGCGTCCTGCTCTTCTTCCTGCCATACAGATCCTTGGCACTCAGCACTTTC GGCCCCTGGGGTCCATGTCACCTCGGAAGCACTGAGGCTGCCCTGTGTTCCCAGTTTGCC TCCCTGTCGCGGCTAGGAGCTTCCCCAGAGTAGAGACGGGCCTTGTTCAGCTCAGCACCC CCTCCCACCAGCCCCCAGTGCTCAGCACCCCCTCCCACCAGCCCCCAGTGATCAGCAGCC CCTCCCCACAGCCCCCAGTGCTCGGCACCCCCTCCCACAGCCCCCAGTGCTCAGCACCCC CTCCCCACAGCCCCCAGTGCTCGGCACCCCCTCCCCACAGCCTCCAGTGCTCAACACAAT GCCAGGCACAGAGTGGGAACCTTTGTTGAACCGACCCAATTGCCTGTCACCTCAATGCCC TGTGCTGTAGTGGGCGAGGAGGGAAAAGAGGCACCTCCACACCCAGTCTGGGGCCACCTT AGGTGACCCCTGTCCTCCCCTTGGACCTGCCCTCACATTCCTGGGGAAGGCACACCTTCC TCTCTGCTAGGGACACAACTGAGAAAACTGAGACCCCGAGCTCAGAGGCCTCTTGGCTGG GGCCTAGTCATCCTGGCTCCCCAGTCTCAGAGCCCCAACCCCGCAATAGGGAGCCATTCT TACAATCATTCAGTAAATGTTTATTGAGCACCTACTACGTGACAGCCACTCTGCTAGGAG TAGTGAATTTCGTGGGGATGGGACATACAGGGTCTTCGCACTCAGGTAGTTTCCCTTCCA AAAGCATTGTCAGATAATATGAACACAAATCAATCAAGAAACCACGTATTGGTTTTTTTG TTTTGTTTTGTTTTCCTTCTAAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGT GCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTTAGGCAATCCTCCCACCTCAGCC TCTCAAGTAGCTGGGACTACAGGTATACGTCACCACACCCAGCTAATTTTTGTATTTTTG TAGACATGTGGTTTCACTATGTTGCCCAGTTGGTCTCGGACTCCTGAGCTCAAGCAATCT GCCTGCCTCAGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCCACCACGCCCAACCAAG AAACCATTTAAAAATTAGTCAGGCATGGTGGTGTGTGCTAGCTACTCTGGAGGCTGAGGT GGGAGGTTCACTTAAGTCTAGGAGTTTGAGACTGATGTGAGCTGTAATCATGCCACTGCA TTCTAGCCTGGATAACAGAGGGAGACCCGCTCTCAAAAAAATAAAAAAGAAGAAAGAAAT CAGCAGCCCACACTGAGATAGTGAGACCCTGTTTCTACACACAGATTTTTTTTTTTTTAA TTACCTGGGCACTGTGGCATGCCTATAATTCCAGTTACTCAGGAGGCTGGGCCAGGAGGA TCCCTGGGGCCCAGGAGTTCAAGGCTGCAGTGAACTATGATCATGCCACTGCACTCTAAG CCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAGGAAGAGAGAGAGAGAGGAAGGAAGGA AGGAAGCAGGGATGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGGAGGGA AGGAGGGAGGGAAAAGAAACCAGAACATGACAGATTGGGTCAAGGTGGTGGCCAGGGAGG GCCTCTGAAGAGGAGACATTTGGGCCGAGATGTGAGAAGGTCTGAGGTATTGGGGGGAGG GTGTCCGGGATATGGACAGCTGGATGTGCAAAGGCCCTGGGACAGGAAAGGGCTTAGTGA GTTCTAGGAACCACAGGAGGCCAATAGGCTAGGTGGGGAGAGAGCGAGAGAGACGGAGTG CAAGATGGGGTCAGGGAGAGAAGTAGGACCACATCGTCCAGACCTGCGGACCACTCCCAA GGATGCTGCAGCCCATGCCCGGTGGGCAGCAGCTATTTCTGAGAGAAGAGCATGTGTTTA GAGCCCCTCAGGGGAGCTAAGCCCCCCTGAAGAAGAGACCAGCAGGTCCCCTGGTATTAG CTGAGTCCCAGGGATGGGCAAGAAAAGAAGCCAGGTGAAGACTAGAGAATGAAGGAGGGA GATGGACCTGAGGGTGACCTGCCCATCTTCCCCAAACATCCTTCGCTGGTGCCAGCCAGA CTTACCTCTTCCCTGCACTGCCCCTCTCTCCCAGCCCCTGCTCACCTACCCTCACACCTG CAAATCCAGCTCGTTCTCCCTTTCCCTCCACACTTCCTTCCTCTGGCCCTACCACCTCCA ACACGTGGATCCCCTCCACTGACATGTGGCCCCCTCTGGAGGAGGACCAGGAGACCCTGG GATGCCCTGTGCCCCACTCAGCCTGTGCCCTCTGCTGCAGGGACCCGCGGTGCGGGTTAT GCTGGGGGCTCAGATCACCGTAGACAACTGGACACTCAGGACCACGCCATGGAGGAGCTG CAGGTGGGTGTTCCCTGGCATCAGCAGTGCTCCCACCTGGAGGCTCTGGGGACCTGGTCC TAGACTCCTATCTTCGTTGGGGGTGGAAGAGCCCCTCACAGCCCAGCCTCAGCGGCCACT TCCCACAGGATGATTATGAAGACATGATGGAGGAGAATCTGGAGCAGGAGGAATATGAAG ACCCAGACATCCCCGAGTCCCAGATGGAGGAGCCGGCAGGTGAGCCCCTCTCCCTCCCTC AGCTGGGATGAGCTGCTGAGCCCTAGACAGGGACAGGAGGGGCACTTGTCCTCTCCCCTT CTCCACAGTCCTCCTCCCAAGCACCACGGGCCGTTCTCCCCTCAATTCTGGCTGATTGAA GGATAAACAGAGCTTTGTTTGAAATGATCACAGGAGGTGGCTGGGAGAGCAGGGGCAGTC ACCCATCCAGTGCCCCTGCAATGTGAGAAGGGCGGGCAGCCAGTTTGGGACAAGGGCGTG AGCCCACATGCCATCTGTGCCCATCCAATGCCAGCTTCCAGGCCAGAAAATGGGCTTGTT CTTGGGGAAAGAGGTCCTGAGAAATGAGGGGCTTGTGGGGACCCTCCTAGATAGAAAGAC ACCAGGAACCACCCTGCCTTCCCTGGCCTGTCCAAGGTCTTAGGTGGGGAGCCCCAGGCA GGACCTGTTTACTGTCAACAGGACTTAAGTGCTGGAGATTGGGATTAAAGTTAAGAGGCC CCTCTTGGAAATGAGGGCTGGGGGTGGGAGGGGTGGGAATATAAGGGGCTGACCCACCCT GGTGCCTCAGCTCAGTGAGACACTGTGCTGACGGGCTCATTGAGGCAGGTGGGAGGAGAG AAGGGAGTCTGGTCTCAGAGGTGGCAGGGGAGGGAGGAGGTCCTAGGAGGATCCTGAAAA TTGCCACTCAGGGCTCTGCCGTCACCTTGGAGAGGTCCCTTCACTTCATCACTGCGGAGG GGCTAGGCCTCCCTGGCTGAATCCCGGGTGTCCTCGACAAGGCTCAGATAGGGAGCCCAA GGCTAGGCCCAGCACACAAGTGTGGGGAGCCTCATTCTGCTGAGTGGCCAGTGTGGGATG CGGCACCAGAGACCCAGCCCAGGGCACTGGGAAGGAGGGGCATCTGCCCATGCCTGGGTC TCTGAGGCTCACAGTGGATGGTGAAGAGCCTCAGGTGGGGGACGGTCAGGTCAATACTAA CCGACCTCTGGTTTTCAGCTCACGACACCGAGGCAACAGCCACAGACTACCACACCACAT CACACCCGGGTACCCACAAGGTGAGGACCCCAGCCTCCTCCGTTCTTTCCCATGCTGCCT TTGGGACCCACCATTTGATCAGGGAAGAGAGGAGCAAGGGGATAGAGGCAGCTTCAGGCT GGGGGAGACCCTGCAGCAGATAGAGGAGTGAGGATCCCAGGAAACAGGTGGGAGGGACGC CCCACTGATGGGGAGGCCTGGGCCCCTTTCCAGGAGCACCCTGGGCAGAGATAACCTGAT TGACAAGGGCTGAGTCCCCAGGCCCTCAGGCCCTGGCTGGGCTGTCGGGCGTCACTGGGG AAGCACAGAATTAAAGACTTGTTCTCCTCTGCCCAGGCCCCTCAGGTCCCCACTGGGCAC TGAACTGTCTAAGTGGTTAGAAATTTGGGGTGGCCCTCAGCTATGGCCCTTGGAGCAACC ACCTGGCCTCAGGGACATGCTAAAGCACATCCACGAACAATCTTAGAGGCTGGAGACTGA CCCAATGACTCCAAAGTCCCCTTTAGCTTCGGCCCGCCAGGCCTCTGCTTCCCACTCCTT TCCCTCCCCAGTGGCCTCTCCAGCATCCCTTTGGGTCAGGGTTCTCCAAATGCCTTCTGC AATGGGGTAAAGGCCTGGCCAGGAAGTTGGGAGATAAGGGAGTGGTGTGAGCCGTATCTA CGGACCCTTGAGCACAGGGATCCAAGCCTCACAAGCACAAGCCTCTCTCGAGAGTGGCTG AGCACCCACTATGCCCTGGACTATGCCTGATGAACTAACTCAGGCGCATGGGGCCACAGG TCTATGTGGAGCTGCAGGAGCTGGTGATGGACGAAAAGAACCAGGAGCTGAGATGGATGG AGGCGGCGCGCTGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCC CGCACCTCTCTCACCTCACCTTCTGGAGCCTCCTAGAGCTGCGTAGAGTCTTCACCAAGG GTGAGCCTCCTGGGCCCTTCTGGACCCCCTGCAGATGAGGATTGTTGTGGGGTGCTGTGG CCCAGCCTACCAGCTCACTCCTCCACTGCCTGCAGGTACTGTCCTCCTAGACCTGCAAGA GACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTATCTTTGAAGACCAGAT CCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTAAACACAGGTGCCCCTG CCTGCCAGGGCCTGGATTCCATATCCAGTGGGCCCACTTCCCCAGCCCACTTGCCCCAAG TTCTCCCCCGGGATCCAGGTGGCCCTACCCTCACCAGGCAGGGGCCCACTTTCCTCCACT ATGGCTCCCATCTCTGACACCTTGAAAGGGGTGGCCATGTCCTATGCTCAGAGTTGGGGG CTGTTGGTCCCCAGGAGGGCAGACCTGCAAGGCCCTTTTCTGTAGCCACTCTTGATCCCG CCTCGTCATTCCAGAGGCCACCCACTTACATCTACAACGTCCTTGGAGAGGAGGCTCTGA TTCTCCTTCCATCCCAGGGTCTCTCTGGTCTGGTCTGGGAAGTCCCAGATGTCTACCCTT GATGTCTACCCCAGTCCCTTGATGTTCGCCCTTGATCCCTCCCACCACTGATAGCTCAGC CTGAACAGCTTACTCAGCCCATGTCCCCTGTACGTCCTGCAGCCACGCTGGAGAGCTGGA GGCCCTGGGGGGTGTGAAGCCTGCAGTCCTGACACGCTCTGGGGATCCTTCACAGCCTCT GCTCCCCCAACACTCCTCACTGGAGACACAGCTCTTCTGTGAGCAGGTGAGTCAGTTACA GGGTCAGGGTCAGGGTCAGGGTGGGGCAAGGAGAGAGCTTTCTCAAACGCCAGCAGGGGT CCTGAAAAACCGACCACAAGCAGGGGACCAGAAGCACTCCTGTGCCCGGGGGGTGCCAGG AGAGTTGGGAAGCGAGAATGGGAAGGGGAGGATGCTCAGGTCTCCCAGGTCAGACTGGCC CGAGGACTCCCGTCACCACCCTCCTTCCCACAGGGAGATGGGGGCACAGAAGGGCACTCA CCATCTGGAATTCTGGAAAAGATTCCCCCGGATTCAGAGGCCACGTTGGTGCTAGTGGGT AAGAACAGGCATCTCTACCCTCAGCCCTCCACACCCCTCGTGTCTTGGCTCAGCCTGTCT TTCCCTCAGCCTGGACCCCCGCAGCCCCATCTCTTCAGCACACCCACCCTGGGCTCCTCG GCCTGGCCTGATCTTCTCATCCCCTAACAGGCCGCGCCGACTTCCTGGAGCAGCCGGTGC TGGGCTTCGTGAGGCTGCAGGAGGCAGCGGAGCTGGAGGCGGTGGAGCTGCCGGTGCCTA TACGCTTCCTCTTTGTGTTGCTGGGACCTGAGGCCCCCCACATCGATTACACCCAGCTTG GCCGGGCTGCTGCCACCCTCATGTCAGAGAGGGTAAGGAAGGGCCGGAGAGGGCTGGGCT GGGGAAGCTTGGGACCTGCATGGTGGCTGAGGCCTGCTCTCCAACCTGGCCTGGGTTACT TTAGGTTCACTGGTTTGACCCATTCAGCCTAATCCAGCTGCTGCTATCCTACCTGGCGGG GGCAGTCGGGGCGTGCAGTCTGGCCCTGCTCTGGCCTGGTCTCGTCTGGTTGGCTTTGGC CTGGCTTAGTCTAGTCCAGCTCACTATGACCTGGTTCCACCTGGTCAGGTCAGGCTTGGT CGGGCCTAGTCAGCTCTAGTTTCATCTAGTCTGCTTAACCCACCAGGTTAGCTTTAGTTC CTTCTCCTTTCCCCACCCAGGGCCCCCGTCTGTCTCCCCAGAGCTCTTTCTTAGTGGGGA GAGTAGGGGTGGGAGCGGGCAGGAAAAGCAGTTCCTGGCAATGGGAGCTGCTGCCTGAGG GGGTTCTGGTTCCTGGAGGCCCTGGCTGTGGACTCCTGGGTCCTTTCCCTCCGCAGGTCC GGGCAGCTCTGACCCTGTCTCCTGCCCCTAGGTGTTCCGCATAGATGCCTACATGGCTCA GAGCCGAGGGGAGCTGCTGCACTCCCTAGAGGGCTTCCTGGACTGCAGCCTAGTGCTGCC TCCCACCGATGCCCCCTCCGAGCAGGCACTGCTCAGTCTGGTGCCTGTGCAGAGGGAGCT ACTTCGAAGGCGCTATCAGTCCAGCCCTGCCAAGCCAGACTCCAGCTTCTACAAGGGCCT AGGTACCTGCCCTTCCCAGCTGAGGCTTTCTGAGCCCCCACCGACCCCCAGACACCTCAG CGTAGCCTCTGTCTCCCATCACATGTTCCCCTCTCATCGCTCCCTTTGCCCACATCTTCC AGACTTCTTCGCCGCCCCATTCCCATCAGACAATCTCCCCTACACCCTCCAGTCCCCTTT CCCCTCACCTCCTCCAGCTACTCCCTCTGACCATGCTCTTATCCTCCACCACAGACTTAA ATGGGGGCCCAGATGACCCTCTGCAGCAGACAGGCCAGCTCTTCGGGGGCCTGGTGCGTG ATATCCGGCGCCGCTACCCCTATTACCTGAGTGACATCACAGATGCATTCAGCCCCCAGG TCCTGGCTGCCGTCATCTTCATCTACTTTGCTGCACTGTCACCCGCCATCACCTTCGGCG GCCTCCTGGGTCAGTGCCAATACCTGTCTCCCTAACTCTTGCCTCTGACCCTCTGGCCTC TGTCTCAGCCCCAACTTCTGACTCTGTCTGACCCTCCAGACCCCTGCATCAGCCTGACCA TGACTTGCTCTATGGGCTCCTGGAAATGATCTCCTGACCTTGATCCCACTGTGACCTCTA CCCACAGGAGAAAAGACCCGGAACCAGATGGGAGTGTCGGAGCTGCTGATCTCCACTGCA GTGCAGGGCATTCTCTTCGCCCTGCTGGGGGCTCAGCCCCTGCTTGTGGTCGGCTTCTCA GGACCCCTGCTGGTGTTTGAGGAAGCCTTCTTCTCGGTAGTTCTGTCCTTGCCCCACTGA CCCTGTCATGTCCCCCGCACCACCTGCCTGATGCATGGTGCCTTGCCCCAAGACCCTTTG ACTGACCGGCTTCTTCTGACCACCCTGCAGTTCTGCGAGACCAACGGTCTAGAGTACATC GTGGGCCGCGTGTGGATCGGCTTCTGGCTCATCCTGCTGGTGGTGTTGGTGGTGGCCTTC GAGGGTAGCTTCCTGGTCCGCTTCATCTCCCGCTATACCCAGGAGATCTTCTCCTTCCTC ATTTCCCTCATCTTCATCTATGAGACTTTCTCCAAGCTGATCAAGGTGGGGGCCTATGGG GATGTTAATGCACACGGGAGGTTGTGTATAAGACTGAGACAGTGGCCGGGTGCGAGGGCT CAGGCCTGTAATCTCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACCCGAGATCAGGAG TTCAAGACCAGCCTGACCAACATTGTGAAACTCCATCTCTATTAAAAATACAAAAATCAG CCAGATGTGGTGGCATGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACT GCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCT GGGCAACAGAGCAAGAATCCGTCTCAAAAAAAAAAAAAAAAGACTGAGCCATTGTGTCCT CGCACATGTGTCTGTGCAGCATTTGTGTGTCTTTGCTTTCACCTGTGTACATAACCATGT GACTGTGCACATGACTGTGACAACATATGTGTCTGTGTCAACATATGTGTCTATGTCTGT GTAGTCACACATCTGCACACAGGACTGTGCAGCTGTGTTGACTGTGACCACATATGTGTT GGCACCTGCTGCCTGTGGCCAGCACTCTTGCTGAGGCATGAGAGGGTGCCTCTGTGTGCA CATGTCCAGTTCATGACCACACATGACGTGAGCAATGGGTAGGTATGGGCATGACACTGA GCATGTGAAAGTACATGCACAGTGAGAGCTGGGGGGACTCTGGAGCCTCTGAAGTCCCCC ACTCCCTCCCCTGTGCTTGTCCTCAAGAGCTGCAGGGCTTGTGGATGGAGTGCCCAGCCA CCTTGGCTTGGCTCCCATCATCTTAAGCTCTGCTTGCCTTTGTACCTGCATTTTATATGG GAGAAGGGTGAGCCCTATGTGTTGTCCCCTGATTCTGTTGGATGGAGGGTCTTTCTGTGT CCAGGTCTTTTAACCCCTTGTTAGAAACTTCCCTGACCCTTGTTTCCTGACCTCCAGCCT TCTCATGTCTCCCAGGTCCTGGGTGTACATGTGTGCTCGCACACACACCCATTGCCTTCC ATGGCCCTCCCTGCCTAAACCTAGGCTGTCTTCATTCCTGAAAACCAAGCTGTAGAATCC CATTTATCCTCTGTTTCCATGTCAATTGAGGAAGAAGATAGATGGATGGATGGATGAATA GATGGATAATGGATGGACGGATGGATGGATGGATGGATGGTTGGATGGATGGATGATTGA TGAATGAGTGGGTGGATGATGGACGGATGAATGGATGGATAAATGGGTTGATAGATGATA GGTAGGTGGATGGATGGGTAGATGGATAATGAATGGATGGATGAATAATCAATGGATGAT CAATGGATAATGGATAGATGAATGATGGATGGGTGGATAAATGGATGGATGATGAATTAA TAGATGACTGGATGAATGGATAGTAGTGCTGGGTAGAGTTAGCTGGTGGTATTTTCCAGC CCAAGCCAAAGCTGGGAGAGAACAGAATGCCTTGGTTTTCTGCTGCAGATCTTCCAGGAC CACCCACTACAGAAGACTTATAACTACAACGTGTTGATGGTGCCCAAACCTCAGGGCCCC CTGCCCAACACAGCCCTCCTCTCCCTTGTGCTCATGGCCGGTACCTTCTTCTTTGCCATG ATGCTGCGCAAGTTCAAGAACAGCTCCTATTTCCCTGGCAAGGTCAGCATACCCTCCTCG CCTGTCCTTGCCAACACTGCCCTATCCCAGCCCAAAGCCCCCCCGCTCCAAATTCCTCAG TGCCCTTAGCTTCCCTTCTTTTTCAGATTCCCATTCCCAATTCCAACCTCCCCTGGCCCT ATCCTTACCTAGGGTTTCACTCTATGGGCAAGCCCCTCCCACTTTCATGGCATGCCCAGC CTGAGAACTGCTGGGGGAAGAAGAAAGGAGGCAGACATAGCTGAGGTGCAGGACAGGGCA TTAGATGCTGATGGATCCCCTGGAAGAGCAGGGCCCCGTGGGTGAATATAGGGCAGGAGG AAGGCAGGAGGTGGGGAGTGACTGGGCACTGACCACTGGTCCTTTCACCTGCCCCCAGCT GCGTCGGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCATGGTCCTGGTGGA TTTCTTCATTCAGGATACCTACACCCAGGTGACCCCTCCTCCCAGCCCTCAGACCATGAT ACCCCCCAGGTCCTCATTTCCACCCCCCAGCATGCCCCTTCCCTAGAATAGCTTTCCCCA ACCTGAAGCCAGCTGGGACTACCTCTACCCCATCCCTGCCTCCTCTGGGAGTCCCATGTG CTTCTCACAGCCCCAGAGGACCCCTGTGGCCAAAGCAAGGTGCTGGGCCAGGTTGCCACC TTCATTCCTTAACCCAGAGCAGTAGGAAGAAGTATTCTTTGGAGCCAGGCAGATCTAGGC ATGAATCCCAGCTCTGCCATCAAATAGCTGTGTGATGTGGGGCAAGCTACATAACCTCTC TGATTCTCTTTCCTCATCTTTAAAGTGGGGAACGAGCAGATGGATGTAAAGGGATTAGTG TAATGATTAGGTACAGAGCAAGTGCTCAATATAAGTAAGTTCCCAAGTGCCTCCAACCTA ACTGCCCGACCCCTAGGACCCTGGCTCCTCCTGCTCCCACCCTTCCCCATCCTCCTGCCC TTGGCATTCTTACCTGCTACCCCCTCCCACAGAAACTCTCGGTGCCTGATGGCTTCAAGG TGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTC CCATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCC TGGAGTCTCAGATCACCACGTGAGAGACAGGGTGGGGGCTGGGCCTGGGAGGGTGGGAGG CAGGGACCTTTCCCTGGCATTCTCCCAGGCAGGCAAGAGACCCAGGACTGCAAGCTAGTC CCTGCGGGTGTGTGGCCCTCCCGACTAGCAGGAATAGTGAAAAGCCAGGGGCAGTTCCAG GTTTTGTGGGACCAGAAGTTGTATAATTTGGAGAGCTCTTTTTAAGAAAAAAAAAACGTG GCCGGGCGCGGTGGCTCACGCCCGTAATCCCAACAGTTTGAGAGGCCGAGGCGGGCAGAT CACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAGCCCTGTTTCTACTA AAAATACAAAAAATTAGGCGGGCATGGTGGCACGAGCCTGTAATCTCAGCTACTTGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCTCG CCATTGCACTCCAACTTGGGCAACGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAA AAAAGCGCCAGGTGAGGTGGCTCACATCTGTAATCCTAGCACTTTGGGAAGCCAAGACGG GGGGATCACGAGGTCAGTAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCCGTTTCT ACTAAAAATACAAAAATTAACCGAGTGTGGTGGCATGTGCCCGTAGTCCCAGCTACTTGG GAGGCTGAAGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAAATC GCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTAGGAAAAAAAAGAAAAAGAA AAAAAAATGCAAAATGACAACTATAAAATTAGGTGCTGGATCTTGGAGGGGCCTGTACAA GCAAAGCTCCCTGAAGCTGAAGCTTCGTTGCCTGCGAATCAGCCTTGAATGTTGTGAAGA CATTTCTGCTCTTAAGAGTTTGGATTCTCAAGATGGGGCGGGAGGGAGGGGAGCAAGGAA CTCAAAGAGCGAGGGGCACAGAAGACAAAACTGAGCTACAAGGACACCAAGTATGGAGAA GGAAGGAGGGGGTGGAGGAGGCAGGGGAGAACCCTGCTTACCCCTCACCTTCCCCTACCG TAGGCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGA CCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGGATGCCCTGGCTCAG TGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGCCAG CACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCT GGTCGCTGTGCTTGTGGGTGAGTGAAAGCTGGGTCGCGTCTTCACCATCCTCCTGCCCCT CACCCCCGGCCCCTTCCCCTTCCCCTTTCTGTTCGGACCCAGCACCTCCTCCAGCCTCCC CCATCCTGCACCACTTCCCCACATCTCCCCAGCATCCCCTACTCACACGAGGGGATCCTG GAGGAAAGGCCAAGGCACTGGGCTGGGCGTCTGAGCAGGGAGGAAGGGGGCTCCACTCCG AGGCCTTCTCCAGACCAGACCCCACCTTCTGACTTACCCAACAGAAGTCCAGTGAACTGT GGGTTCTAGCCCTGCCCTGCTGCTAACCCAGTATCCCTCCTTGTCTCTGGGTCTCAGTTT CCCTGTCTGCACAGTTGGAGGGTTCAACAGATGTCCCCCAGTTCTCTTCCAGCTCAGCTG CTCCATGACTGATACAAGGGGCGGTGCTCTAGCCATAGTCCAGGGATGTGGGGGAGAAGA AAGAAGGGTCACTGGGGTTGATTTCAGTTCTGGAGCAGCCAAGAGTCGAGCTGGGTTCGG TGTGGGCAGTGCCATGGTTGCAGATGGAGAGGTCAGGGAAAATTCTTAAAGGAGGCAGTT GATGGCATTCTGGGCTGGGGTGAGGAGAAAGGTGTGTGTGTTTGACCTCTGTGACCCTCA TTAGGTTAAGGGAGTGGGCTTAAGTCAGGCAGGCAGGGCTTTGACTCCTTGCCAGCTGTG TGGCCTTAGGCAGGTTGTTTACCTCTCTGAGCCTGTTTCCTCATCTGTAAAATTGGGGTA ATACCTATAAAAAGGACCGATAGAGGCCGGGGGTTGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGACTGAGGCAGGTGGGTCACCCTGTCCAACATGGTGAAACCACGTCTCTACT AAAATTACAAAATCAGCTGGGCGTGGTGTCGCACGCCTATAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCTGAGATTGCAC CACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCAAAAAAAAAAAAAAAAAAA AAAAAAAGACCCATAGGAATAGCTCCAGGCCAGGCGTGGGATCTCAACACTTTGGGAGGC CAAGGCAGGAGAATCACTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATAGTGAGA CCTTGTCTCTACTAAAAATTAAAAAAAAAAAAAATGATCCAGGTGTGGTTGTATGTGCCT GTAGTTCCAGCAACTAGGGACACTGAAGCGGGAGGATCACTTGGGATCAGGAGGTTAAGT CTGTTGTGAGCCGAGATCACACTACTGCACTCTGGCTTGGGTGACAGAGCGAGATCCTGT CTCAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGGAAAAAAGAAATGGC TCCATATGGTGCCTGTGTTTTATTCCCAGCCCCAGATAGGGGCCTGACCCCCCACTGGTG CCAGGCCTCGGGCAACCTGGGCTGAGAGTGTGCGGCTCCCCCACAGGCCTGTCCATCCTC ATGGAGCCCATCCTGTCCCGCATCCCCCTGGCTGTACTGTTTGGCATCTTCCTCTACATG GGGGTCACGTCGCTCAGCGGCATCCAGCTCTTTGACCGCATCTTGCTTCTGTTCAAGCCA CCCAAGTATCACCCAGATGTGCCCTACGTCAAGCGGGTACAGGACCCTTTTCTGGCTGCC CAGCCTGGGGTGGTAGAGGGTGCTGGGGTGTGATAGGCACTGACCCCAGCCTCCGCCTGC AGGTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCTGCCTGGCAGTGC TGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCTCACTG TGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGTGTGA GTGGCTGCCTGGGCCTGGGGCACAAGAGCTGGGAGCATGCGAGGGGCGCGTCTCAGAACT AGGGCAGGCAGGACAGAGTCATGGGTAAAGTCTGGGGCTAGGGCTGGTGTCCAGGTTCTG GCCTGCTGTGTCCTAGCATATGATCTGGAGCACGGGGCCTTGTTTCTCTGTGTCTTCATT TTGCTCACCTGTAAAGGGGGAAATGATGGCACGACTGGGGAGAGCGTCAAGAGGCAGACA GGGTGTGCTGTGAGTGAGCTGGACCCCTAAGCAGCAAGTCCTGCCGTCTTCCGAGTCATT TGGGACAGAGTCACTCCTCTAATAGGATTCTTCCACAGGGTGACTCAGGTCACTGTGGGG CCGCCTTGGTGAAAAGGTCCCCTGCTCACCCTCTGCAGGCCCTCCCCTGCCAGGGTCCAC ATCCCCGGGGTTGCCTCTCACTTTGACAACGACTCATTTAGGCCAGTCCTAGCTGCTGGG GAGATAAAACAGGACTGGTCCAAGGTTCAAGACAGCCAGACCCTCTCCTAACTCCAGAGG TGCCTTTCGTGCCCGGGGAGGGCTCTTCTGGCCCCAGGGTCTCTCACCCTGTCTCTCTCC TGTCCCTCCCCTCCAGCTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGG TCGGGATGAATACGACGAAGTGGCCATGCCTGTGTGAGGGGCGGGCCCAGGCCCTAGACC CTCCCCCACCATTCCACATCCCCACCTTCCAAGGAAAAGCAGAAGTTCATGGGCACCTCA TGGACTCCAGGATCCTCCTGGAGCAGCAGCTGAGGCCCCAGGGCTGTGGGTGGGGAAGGA AGGCGTGTCCAGGAGACCTTCCACAAAGGGTAGCCTGGCTTTTCTGGCTGGGGATGGCCG ATGGGGCCCACATTAGGGGGTTTGTTGCACAGTCCCTCCTGTTGCCACACTTTCACTGGG GATCCCGTGCTGGAAGACTTAGATCTGAGCCCTCCCTCTTCCCAGCACAGGCAGGGGTAG AAGCAAAGGCAGGAGGTGGGTGAGCGGGTGGGGTGCTTGCTGTGTGACCTTGGGCAAGTC CCTTGACCTTTCCAGCCTATATTTCCTCTTCTGTAAAATGGGTATATTGATGATAATACC CACATTACAGGATGGTTACTGAGGACCAAAGATACATGTAAAATAGGGCTTTGTAAACTC CACAGGGACTGTTCTATAGCAGTCATCATTTGTCTTTGAACGTACCCAAGGTCACATAGC TGGGATTTGAACTGAGCCGTGCAGCTGGGATTTGAACCAGGCCTTCTGATTTCAAGGTCC GAGCTCTGTCCTCTGTCAGTCATGCGTCCACTTTCCCTTCCCCTGTGACTCCTCCCTTCC CCACTCTGCTCCCAGCCCCTACCTTGAGACCCTCTTCTCTGGGCCCAGAGAGAGGCGTCC TGGTGAGGACAAGGTACAGGCAAGGATGATCCAGGGATTGGGCCTGGGACTCAGGCCTCC TAAGTGTTTGGTTCCTCCCTCCAAACACTCATTAGTTCACTCATTCATTCATTCCACAAA CATTTACTGAGGGCCCCGGAATCAGTGGACTCCGAGGGGACTGAGACAAGCCCTGCCCTG GGGTGGGGGTGGGGGGCAAGGTACAGTTGATTCTACATTTGGATAGGGAGTGGGGGAGGG TGGGAAGGTAGGGGCGGGAGAGTGAGGGGGTTTGTAATTTATTAATTGCGTATTTTCTAA GAGTTTTCAACATAGTTTGGCTTCACACACAACTTCAGGCCCCTCATTTGAGAGCCATTA TCCTCAACTCCATCTAAACTGAATCTTGGGGAGAACCCAGATCTGACCAATTGGGGTAGG AGACAGCAGGCTCTCCAAGAACATGGGCAAATTTATTTTTTTATAAAACAAAAAGATAAA AAGAGTTGAAAGACGTGAAAGTGGTGAGAGATGGAGGAAACAGAATCAGGAAGTGGTAGA AAAGAGAGGAGGTGGCTGGGCGCAGTGGCTCACGTTTGTAATCCCAGCACTTTGGGAGGC CAAGTTGGGCGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAA CCCCGTTACTACTAAAAATACAAAAATTAGCTGGGTGTCTCGTGGCAGGCACCTGTAATC CCAGCTACTTAGAAGGCTGAGGCAAGAGAATCACCTGAACCCAGGAGGTGGAGGTTGCAG TGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAACGGAAGGAAACATCAGCCTTGGGGGCCACAGACTC AACATGTGTGTGTGGTGGGGTTCCAGCCCAACATAGAGTAACATTATTTGTACCTCCCAG GCTAGCTCAGTCCATGGGAGGCTCTCCTGTCCCTGAAAGCTGACACCCACCTTTCACCAC TTCGCCCATGCTACAGTTCAGTTTCCTCGTCTGTAAAATGGGGATGATAATGGTACCTAC CTTGCAGTGTTGTTATAAGGATTAAAGGAGACAGTGCAAGAAAAGGCCTTGGTTGGTGAA GAGCCCAACCTCGGAGGGGAGCTGCTGGGATCCTCCTTATCTTGACTGGGATGTCCCTGT CTCCCCCTCCCCTTGCTCCTTGAACATGGCCAAGGAAAGTGAAAAACAAAAATTATTCAC TCTGCTAGCACCCTTCCCCTTGATGCCTGGGAATAGGTTTTGCCAATAAACGTATCTGTG TTGGA OMIM ID 109270