Property Summary

NCBI Gene PubMed Count 38
Grant Count 9
Funding $1,353,882
PubMed Score 210.43
PubTator Score 147.59

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Gene RIF (8)

PMID Text
26490222 AGAT deficiency is a treatable intellectual disability.
25863251 Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy.
24004504 Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene.
23010440 promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis
20877624 Observational study of gene-disease association. (HuGE Navigator)
20682460 GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376.
19430482 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
16820567 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.

AA Sequence

MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYN      1 - 70
EWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVT     71 - 140
VRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKW    141 - 210
TTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEW    211 - 280
MRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHP    281 - 350
LWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS    351 - 420
YLD                                                                       421 - 423
//

Text Mined References (44)

PMID Year Title
27233232 2016 Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
26490222 2015 Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25863251 2015 GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals.
24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24047826 2013 Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.
24004504 2013 Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies.
23770102 2013 Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
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