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SAB1402784

Sigma-Aldrich

Monoclonal Anti-GATM, (N-terminal) antibody produced in mouse

clone 2H7, ascites fluid

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Synonym(s):
AGAT, AT
NACRES:
NA.41

biological source

mouse

conjugate

unconjugated

antibody form

ascites fluid

antibody product type

primary antibodies

clone

2H7, monoclonal

mol wt

antigen ~37.11 kDa

species reactivity

human

technique(s)

indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgMκ

NCBI accession no.

UniProt accession no.

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... GATM(2628)

General description

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. (provided by RefSeq)

Immunogen

GATM (NP_001473.1, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTY

Biochem/physiol Actions

Glycine amidinotransferase (GATM) is involved in the formation of ornithine and guanidinoacetate from arginine and glycine. This is an important step in creatine synthesis. Mutations in the gene encoding GATM have been shown to lead to arginine-glycine amidinotransferase deficiency.

Physical form

Clear solution

Storage Class Code

13 - Non Combustible Solids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Regulatory Information

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Caro-Lyne DesRoches et al.
Human mutation, 37(9), 926-932 (2016-05-29)
Arginine-glycine amidinotransferase (GATM) deficiency is an autosomal-recessive disorder caused by pathogenic variants in GATM. Clinical features include intellectual disability, hypotonia, and myopathy. Due to normal neurodevelopment in asymptomatic individuals on creatine monotherapy, GATM deficiency is a good candidate for newborn
Jasmine A Luzum et al.
Cell metabolism, 21(4), 622-627 (2015-04-12)
Statin-induced myopathy (SIM) is the most common reason for discontinuation of statin therapy. A polymorphism affecting the gene encoding glycine amidinotransferase (GATM rs9806699 G > A) was previously associated with reduced risk for SIM. Our objective was to replicate the
Marcus E Kleber et al.
Circulation. Cardiovascular genetics, 6(5), 505-513 (2013-09-21)
Low serum levels of the amino acid derivative, homoarginine, have been associated with increased risk of total and cardiovascular mortality. Homoarginine deficiency may be related to renal and heart diseases, but the pathophysiologic role of homoarginine and the genetic regulation

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