生物来源
mouse
偶联物
unconjugated
抗体形式
ascites fluid
抗体产品类型
primary antibodies
克隆
2H7, monoclonal
分子量
antigen ~37.11 kDa
种属反应性
human
技术
indirect ELISA: suitable
western blot: 1-5 μg/mL
同位素/亚型
IgMκ
NCBI登记号
UniProt登记号
运输
dry ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... GATM(2628)
一般描述
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)
免疫原
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
生化/生理作用
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.
外形
Clear solution
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储存分类代码
13 - Non Combustible Solids
WGK
WGK 1
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
新产品
此项目有
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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