Article
The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice.
Biochemical and biophysical research communications - 29 Sept 1997
Jenne D E, Olsen A S, Zimmer M
Abstract excerpt
Guanindinoacetate methyltransferase (gene symbol, GAMT) catalyses the synthesis of creatine from guanidinoacetate and S-adensylmethionine. Pathological mutations in the coding region of GAMT were recently identified in two children with symptoms of muscular hypotonia, ataxia, seizures, and abnormal extrapyramidal movements. During contig construction in the telomeric region of human chromosome 19 we identified a...
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