Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
In a child with severe muscular hypotonia and extrapyramidal movement disorder, elevation of guanidinoacetate and deficiency of creatine in brain suggested a defect in biosynthesis of creatine at the level of guanidinoacetate methyltransferase (GAMT) (Stöckler, S. et al. (1994) Pediatr. Res. 36, 409-413). As a first step in the molecular analysis of GAMT deficiency, the cDNA for human GAMT was cloned using rat GAMT cDNA as a probe. For the coding region there is a 82.5% homology of the nucleotide sequence and 86.9% homology of the deduced amino acid sequence between human and rat.
Georg-August-Universität, Abt. Biochemie II, Göttingen, Germany.
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D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics / Q000302:isolation & purification*; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D008780:Methyltransferases / Q000096:biosynthesis* / Q000172:deficiency / Q000235:genetics; D008969:Molecular Sequence Data; D009069:Movement Disorders / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
D018076:DNA, Complementary; D008780:Methyltransferases; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase