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

Gaucher disease and Usher syndrome

Protein hairless functions as a transcriptional corepressor of multiple nuclear receptors

The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein

involving ubiquitin conjugating enzymes and deubiquitinating enzymes

It is required for the activation of the transcription factors NF-kappaB and AP-1

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