基因名：
AMPD1
产品别名：
MAD； MADA； MMDD； AMPD1； adenosine monophosphate deaminase 1； adenosine monophosphate deaminase 1； AMP deaminase 1； AMPD； adenosine monophosphate deaminase 1 (isoform M)； adenosine monophosphate deaminase-1 (muscle)； myoadenylate deaminase； skeletal muscle AMPD； 腺苷单磷酸脱氨酶1；
背景信息：
AMP deaminase (AMPD) is an allosteric enzyme that plays a critical role in energy metabolism. There are three functional isoforms of AMPD. AMPD1 is the skeletal muscle-specific isoform M located in type II muscle fibers, neuromuscular junctions and in capillaries. Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type (AMPDDM). AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.
