Aliases for AMPD1 Gene
External Ids for AMPD1 Gene
Previous GeneCards Identifiers for AMPD1 Gene
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]
GeneCards Summary for AMPD1 Gene
AMPD1 (Adenosine Monophosphate Deaminase 1) is a Protein Coding gene. Diseases associated with AMPD1 include Myopathy Due To Myoadenylate Deaminase Deficiency and Glycogen Storage Disease V. Among its related pathways are Metabolism of nucleotides and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.
UniProtKB/Swiss-Prot Summary for AMPD1 Gene
AMP deaminase plays a critical role in energy metabolism.