Synthesized peptide derived from human GATM AA range: 223-273
储存条件:
-20°C/1 year
克隆性:
Polyclonal
抗体亚型:
IgG
浓度:
1 mg/ml
分子量:
47kD
基因ID:
2628
蛋白序列:
P50440
细胞定位:
[Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Probably attached to the outer side of the inner membrane.; [Isoform 2]: Cytoplasm.
研究背景:
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, Jul 2008],