Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
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Isbrandt D, von Figura K
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7.
- PubMed ID
- 8547310 [ View in PubMed]
- Abstract
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) (Stockler, 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.