Property Summary

NCBI Gene PubMed Count 26
Grant Count 11
R01 Count 5
Funding $2,053,512
PubMed Score 86.60
PubTator Score 92.26

Knowledge Summary

Patent

No data available

Expression

Gene RIF (13)

PMID Text
26319512 The estimated incidence of GAMT deficiency is 1:250,000 newborns based on our pilot study.
26003046 As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease
24415674 Study reports six novel pathogenic mutations in GAMT gene in patients with Guanidinoacetate methyltransferase deficiency.
23031365 Two novel heterozygous variants with sequence deletion and sequence insertion in the GAMT gene have been identified in newborns with guanidinoacetate methyltransferase deficiency.
21190923 GAMT genes may not be directly involved in human male infertility
21140503 impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures
19343046 Observational study of gene-disease association. (HuGE Navigator)
19288536 Body fluids from 10 GAMT deficient patients were analysed using (1)H NMR spectroscopy.
19161160 Observational study of gene-disease association. (HuGE Navigator)
19027335 Five novel mutations were identified in GAMT from 8 patients with GAMT deficiency.
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AA Sequence

MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFG      1 - 70
MAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLS     71 - 140
EETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTE    141 - 210
VMALVPPADCRYYAFPQMITPLVTKG                                                211 - 236
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Text Mined References (36)

PMID Year Title
26319512 2016 A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
26003046 2015 Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
24415674 2014 Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23031365 2012 Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
21190923 2011 Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.
21140503 2011 Defining the pathogenicity of creatine deficiency syndrome.
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