GATM Rabbit Polyclonal Antibody, 20ul Monoclonal Antibody Preparation Gaucher disease and Usher syndrome
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GATM Rabbit Polyclonal Antibody, 20ul Monoclonal Antibody Preparation Gaucher disease and Usher syndromeThis 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
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