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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 2593 Official gene symbol GAMT Full name guanidinoacetate N-methyltransferase Aliases ,PIG2,TP53I2, Gene summary The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] Location Chromosome: 19   Locus: 19p13.3 Gene position 1401552 - 1397088  Map Viewer Gene orientation minus Gene size 4465 bp Gene sequence >GAMT:complement(1337088..1341552):Length=4465 CCCCGGCCCACAAGCCCCTGCAGGGAGCGGGCCCGGGCGGCGCGCGATCGAGGTCGGGTC GCCGTCCAGCCTGCAGCATGAGCGCCCCCAGCGCGACCCCCATCTTCGCGCCCGGCGAGA ACTGCAGCCCCGCGTGGGGGGCGGCGCCCGCGGCCTACGACGCAGCGGACACGCACCTGC GCATCCTGGGCAAGCCGGTGATGGAGCGCTGGGAGACCCCCTATATGCACGCGCTGGCCG CCGCCGCCTCCTCCAAAGGTAGCCCCCGCCCGGCCTGCACCGCCCCCGGGGGCGCAGGGG AAACTGAGGCCGGGGCTGCCCCGACCCGGGGACTCTGCAGCCCACCCTCCCGCCGGGGCG CCTCTGTCTCCTCGCCTGGGAAGTGGGGCTGCAGGTGGGGGCACACGGAGGCGTTCACGG GGAGTGCGGCAGGCGTGGGGCCCGCACACGTTAGGCACCGCCTAAGTACCAGAAACTTCC TCTCCAGGGGGAGTGAGGCCCCCCGCTCTCCAGATGGGGACCTCAAACGTGAGACCTGGG TGAAACTGGGTGGAACCGGGTCCCCAGCTCCCTGTCTGAGGTCGGGAGGAAGGGGTCGTG CCAGGGAGAGGCTGCCCTTCTGCCTGCCTGGGAGAGCAGCCCCGACTCGCCCGGCTAAGA ATAGCACTCGGAAAGCTGAGCTCAGGGAGACAGCTGTCCCCGGGGTGGCCCTGGCCTGCC TGGCGTCAGACGCTAAGGGCTGCTAAGAAAGGACTCCCTGGCCCCACACAGGCCCCGTCC AGGGGTCGGGCCTCAGTGTTCCCACCCTGAAAATGGGCACGTCCAGTGTCCAGTGCCAAT CAGGATTGAGCGGGGGGCCCATGTGTGGCCCACTGGGGACCAGTCCTTCCCCTCCCAGAT AGTCTCAAGTCCAGGTCTTGCCTGGCCACTCTTGCAAATCCAACTTTCGGATAGAGGGAG GGGGAGAGAAAAGTAACTAACCCGAGAGATAAGGGACCCGGGACAAACAGCGTGGGCTGG GCTCAAAGTCCAAGGCTCTCGCCTCCCCACAGGCCTGGCCCCAAAAGCGGCCGTCTTCGG CCTCCCTGGCTGGTCATCCTCTCTCTGGCCGCTGGCCAGGGCCCACGCTGTTCCCGCTCA GGACTACTGTGTTCCGCCCGCCTCTGTCCATGCTGGCCCAGGGTGCCCTCCCGTCCTGTG GCAAATGTGACTCACATAGCCTAGTTCAGCCCTGCACCCCCTCCTCCAAGCAGACCCCCA GCTCAGCCCTGCCCTACCCTGTGCCCCCTCCTCCAGGAAGCCTCCCCAGCCCTGCTCTGC ACCCCCTCTTCCAGACAGCCTCCCCAGCCCTGCATCCCCTCCTCCTGGCAGCCTCTCCAG CCCTGCCCCGCACCCCCTCCTCCAGGCAGCCTCCCCAGCATTGCCCCACACCCCCTCCTC CAGGCAGCCTCTCCAGCCCTGCTCTGCACGCCCCCCTCCAGGCAGACCCCCAGCCCAGCC CTGCGCCCCCTCCTCCAGGCAGTCTCCCCAGCCCTGCCCTGCCCTGTGCCCCTCCTCCAG GCAGCCTCCTAAGCCCGCCCCACCTAGTGATGCCAGGCGCCCTGTGTCTGCCCAGGGGGC CGGGTCCTGGAGGTGGGCTTTGGCATGGCCATCGCAGCGTCAAAGGTGCAGGAGGCGCCC ATTGATGAGCATTGGATCATCGAGTGCAATGACGGCGTCTTCCAGCGGCTCCGGGACTGG GCCCCACGGCAGACACACAAGGTGCCCCTCTGCCCGCAGGCCCTCCAGGACCCCCACTCC TTGGGGTGAGGGCACTGCTTCCTGGGGGTTGGGGGCCTGGGGCTGTCAGAGGTGGAGGAG GTGGTCTTCTCTCTCGGGAGTCCCCCTGGCCGCTCCCTTTCTGCAGGTGGGGAGATCCTG GGGACCTCTCTACCCTGTCCTCTCTTTTTCTTTTCCCCTCTGCAAGGTCATCCCCTTGAA AGGCCTGTGGGAGGATGTGGCACCCACCCTGCCTGACGGTCACTTTGATGGTGAGGGGTG AGGGGACGTATCACAGGGTGGGCCTCCCCAGCTCCAATGCAGCCCCTCCTTTGCTTGTGG GGGTCCCTCTGATGTGCACTGGGGGGACAGAGCCCAAGTGGGTGTGGGCCTGGCTGTGGG ATGGCGGAGCACCGGGGATGGGCATGCTCACGGAGGGGCCCTGGAGGCGATCTCGGGGTT CTCAAGCCTGTGTGGGAGCCCCACCTCTACCCACGGCCCCGTCTCACTGCACCTCCACCC GCTGGGGGATGAGCCGGGTGAGGCTGGGTGAGGCGCTGAGCCCGGCCCTGACCGCGTGGG CTTCTGTTCTCCGTGCAGGGATCCTGTACGACACGTACCCACTCTCGGAGGAGACCTGGC ACACACACCAGTTCAACTTCATCAAGGTGGTTCTCTCTGACTTGCTGGGATGCGGGAGGC CCTCGGGGAAGCCCCTCTGCCCACACCCCCACCTCCGTCCTGACCACTGGCCACTCCCCT TCCACAGAACCACGCCTTTCGCCTGCTGAAGCCGGGGGGCGTCCTCACCTACTGCAACCT CACCTCCTGGGGGGAGCTGATGAAGTCCAAGTACTCAGACATCACCATCATGTTTGAGGT GCGCCCACCTGAAGTTCCCCATGGGTCTCCAGGAAGTGACCTTGGATGGGGGTGGGAAGG GGCTGCTGGAGCCACCTTGCTACCTGGGGAGGGTCCCTTCCTGACCCCCTGGGTGGGCTG GACTGTGCTGGTTCATTTAGAAATCAAAGTCCTTTGCCTGGCGCAGTGGCTGCCAGGAGC AGTGGCTCAGGTCTATAATCCCAGCACTGTGGAAGGCCGAGGTGGGCAGATTGCTTGAGC CTAGGAGTTCAAGACCAGCCTGGGCTACAGAGCAAGACCTCATCTTTCCTAAAAAAAAAA AATACAAAAAACTAGCTGGGCGTGGTGGCGTGTGCCTGTACTCCCAGCTACTTGGGAGGC TGAGGTAGGAGGATTGCTTGGGCCCCAGGGGCAGAGGTTGCAGTGAGCCCAGATCGAACC ACTGCACTCCAGCCTGGGTAACAGAGCCAGACCCTGTCTCAAGAAAAAAGAAAGAAAGAA AGAAAGAAAGAAAATTTAAAAAAAAAATGGAAATCAGGCTGGGCGTGGTGGCTCACACCT GTGATCCCGGCACTTCGGAAGGCCAAGGCGGGTGGATCACTTGAGCCCAGGAGTTTGAGC CTAGCCTGGCCAACATGGCAGAATCCCATCTCTACTAAAAATACAAAAGTTAGCCAGGCG TGGTGGCGGGCGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGAA CATGGGAGGCGGAGGTTGCTGTGAGCCGAGATTGCACCGTTGTACTCCAGCCTGGGCAAC AGACCGAGACTCCATCTCAACAAAACAAAAACAAAAAAAATGGAAATCAAAGTCCCTCAC CAGCTCAACAACCTCCCATGGCTCCCCAGTGCCCTGTGGTTCAGCCTAAGCCCTGCGTGT TCCCCTCCCTCCAGCTGCCTCCACCTGGCTGTCTTTGCTGGTTCAGCAGTGCTTGTCTCG CTGTTCCCTCTGCCTGGTGGAGGCGGCCTATCTGAGAAGGGCTCTATGTGGTTGCCCTGG GCTGCTGTTGTGAGAGCCGGCTGGGTGCCTGTGGCCCCTGGGGCAGCTTTTCTTCCAAAA TGGGAACTAGTGGCCTGTGTTCTTTTTCTGGTGTGATTCTTTGGCTCCACCCGCCACACT GGCAAGGTCTGGAGAACTGTGGAGTAGGTGCCCGGGGGTGGCTCGAGTGTGGGGCTGGGG TTCCAGGACAGCCGGGAAGCTGCTGCCCGCACTGGGGAGCTGGAGATTCCCGTTCACACC TGGGCTTCCAGGGCTGCCCTGCCACGTGCCCACGGGAGCTGCAGCCGCCCACCCGGGCCT TGCCATCTGTAAACACTCTTCAATGAGGGGTGGGCGCCAGGGTGCACGTGACCCCCATGG CCCTCAGAGGTGACCTGGTGCCATCCCCGACCAGGAGACGCAGGTGCCCGCGCTGCTGGA GGCCGGCTTCCGGAGGGAGAACATCCGTACGGAGGTGATGGCGCTGGTCCCACCGGCCGA CTGCCGCTACTACGCCTTCCCACAGATGATCACGCCCCTGGTGACCAAAGGCTGAGCCCC CACCCCGGCCCGGCCACACCCATGCCCTCCTCCGTGCCTTCCTGGCCGGGAGTCCAGGGT GTCGCACCAGCCCTGGGCTGATCCCAGCTGTGTGTCACCAGAAGCTTTCCCGGCTTCTCT GTGAGGGGTCCCACCAGCCCAGGGCTGATCCCAGCTGTGTGTCACCAGCAGCTTTCCCAG CTTCTCTGTGAGGGTCACTGCTGCCCACTGCAGGGTCCCTGAGGTGAAGTAAACGCCGGC GCTGGGCTTGGCCAGTCGGCAGTGA OMIM ID 601240