AMPD1

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]

Full Name

Adenosine Monophosphate Deaminase 1

Function

AMP deaminase plays a critical role in energy metabolism.

Biological Process

AMP metabolic process Source: GO_Central
IMP biosynthetic process Source: GO_Central
IMP salvage Source: UniProtKB-UniPathway
Purine-containing compound salvage Source: Reactome
Response to organic substance Source: Ensembl

Cellular Location

Cytosol

Involvement in disease

Myopathy due to myoadenylate deaminase deficiency (MMDD): A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.