GATM Antibody

1. Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport . PMID: 28055022
2. Results show the functional characterization of rare missense variants in GATM which cause GATM deficiency. Seven of them report 0% of wild-type GATM activity indicating a putative pathogenicity. PMID: 27233232
3. AGAT deficiency is a treatable intellectual disability. PMID: 26490222
4. Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy. PMID: 25863251
5. Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene. PMID: 24004504
6. promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis PMID: 23010440
7. GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376. PMID: 20682460
8. AGAT mRNA expression was significantly elevated in all heart failure patients and returned to normal levels after recovery, suggesting a specific response to heart failure involving elevated local creatine synthesis. PMID: 16820567

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HGNC: 4175

OMIM: 602360

KEGG: hsa:2628

STRING: 9606.ENSP00000379895

UniGene: Hs.560354