SAB1402784
Monoclonal Anti-GATM, (N-terminal) antibody produced in mouse
clone 2H7, ascites fluid
Synonym(s):
AGAT, AT
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
2H7, monoclonal
Application:
ELISA (i), WB
Citations:
3
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
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
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Storage Class
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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