Analysis of AMPD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1161-LGZ)

Introduction

Official Full Name: adenosine monophosphate deaminase 1<br />Also known as: MAD; MADA; MMDD<br />Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes, AMPD2 and AMPD3, were identified as liver- and erythroid-specific isoforms, respectively. Muscle-specific enzyme deficiencies are apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in humans. Alternative splicing transcript variants encoding different isoforms have been identified in this gene.