腺苷单磷酸脱氨酶1抗体

腺苷单磷酸脱氨酶1抗体 Background: 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. Also known as: AMPD1; AMPD-1; AMPD1; AMPD-1; Adenosine monophosphate deaminase 1 (isoform M); Adenosine monophosphate deaminase 1; AMP deaminase 1; AMP deaminase isoform M; AMPD 1; Ampd01; MAD; MADA; Myoadenylate deaminase; RATAMPD01; AMPD1_MOUSE.腺苷单磷酸脱氨酶1抗体