Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 cosmid clone carrying the entire GAMT gene. This clone was shown to overlap with cosmids from a contig that was previously mapped to chromosome 19p13.3. The human GAMT gene has a size of about 5 kb and consists of six exons which agree with the published cDNA sequence. Since the mouse mutations jittery/hesitant are located on band C of mouse chromosome 10 in a region of conserved synteny with 19p13.3 and jittery mice exhibit ataxia and abnormal movement behaviour, the genomic sequence of GAMT was determined in wild-type and jittery mice. The coding region of the GAMT gene, however, was not mutated in these mutant mice. Our linkage and sequence data will facilitate the identification of new GAMT mutations in patients suffering from an abnormal creatine metabolism.
 ...
PMID: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. 932 56