AMPD1 Antibody – Rabbit Polyclonal

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 have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

AMPD1: AMP deaminase plays a critical role in energy metabolism. 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. Belongs to the adenosine and AMP deaminases family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nucleotide Metabolism - purine; EC 3.5.4.6; Hydrolase

Chromosomal Location of Human Ortholog: 1p13

Cellular Component: cytosol

Molecular Function: metal ion binding; AMP deaminase activity; myosin heavy chain binding

Biological Process: response to organic substance; IMP salvage; nucleobase, nucleoside and nucleotide metabolic process; purine salvage; purine base metabolic process

Disease: Myopathy Due To Myoadenylate Deaminase Deficiency