Full name: adenosine monophosphate deaminase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MAD; MADA; MMDD

Summary: 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]

Expression: Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues

Gene size: 22449bp

Exon count: 16