This gene encodes a mitochondrial enzyme that belongs tonthe amidinotransferase family. This enzyme is involved in creatinenbiosynthesis, whereby it catalyzes the transfer of a guanido groupnfrom L-arginine to glycine, resulting in guanidinoacetic acid, thenimmediate precursor of creatine. Mutations in this gene causenarginine:glycine amidinotransferase deficiency, an inborn error ofncreatine synthesis characterized by mental retardation, languagenimpairment, and behavioral disorders.
应用类型
WB
免疫原
This GATM antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 350-378 amino acids from the C-terminal region of human GATM.
