More product categories related to GATM ELISA Kit
More ELISA Kits for GATM Interaction Partners
Human Glycine Amidinotransferase (L-Arginine:glycine Amidinotransferase) (GATM) interaction partners
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Here, we provide genetic, histologic, cell biologic, and structural evidence for the association between monoallelic GATM mutations and a genetic disorder characterized by renal Fanconi syndrome and progressive kidney failure.
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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 .
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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.
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Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW]
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AGAT deficiency is a treatable intellectual disability.
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Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy.
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Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene.
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promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis
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GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376.
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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.
Pig (Porcine) Glycine Amidinotransferase (L-Arginine:glycine Amidinotransferase) (GATM) interaction partners
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For the GATM BseLI polymorphism, the Yorkshire and Duroc breeds have higher allele frequencies at the G allele, whereas the local pigs have higher allele frequencies at the A allele. (GATM; glycine amidinotransferase)
Mouse (Murine) Glycine Amidinotransferase (L-Arginine:glycine Amidinotransferase) (GATM) interaction partners
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AGAT-/- mice develop cardiac dysfunction that is rescued by exogenous homoarginine, not creatine.
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results show marked metabolic effects of creatine deficiency via the chronic activation of AMPK in a first animal model of AGAT deficiency
Zebrafish Glycine Amidinotransferase (L-Arginine:glycine Amidinotransferase) (GATM) interaction partners
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The spatiotemporal expression pattern of gatm during zebrafish embryogenesis was revealed.
GATM Antigen Profile
Antigen Summary
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.
Gene names and symbols associated with GATM
- glycine amidinotransferase (L-arginine:glycine amidinotransferase) L homeolog (gatm.L) antibody
- glycine amidinotransferase (GATM) antibody
- glycine amidinotransferase (L-arginine:glycine amidinotransferase) (Gatm) antibody
- glycine amidinotransferase (Gatm) antibody
- glycine amidinotransferase (L-arginine:glycine amidinotransferase) (gatm) antibody
- 1810003P21Rik antibody
- AGAT antibody
- AI314789 antibody
- AT antibody
- cb409 antibody
- CCDS3 antibody
- wu:fa08a06 antibody
- zgc:65855 antibody
Protein level used designations for GATM
L-arginine:glycine amidinotransferase , Transamidinase , glycine amidinotransferase, mitochondrial , arginine:glycine amidinotransferase , transamidinase , AT , L-arginine: glycine amidinotransferase , l-arginine:glycine amidinotransferase , agat
GENE ID | SPECIES |
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379386 | Xenopus laevis |
395504 | Gallus gallus |
2628 | Homo sapiens |
414733 | Canis lupus familiaris |
100126844 | Sus scrofa |
414732 | Bos taurus |
67092 | Mus musculus |
81660 | Rattus norvegicus |
266799 | Danio rerio |
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