AMPD1, Official Symbol AMPD1provided by HGNC Official Full Name adenosine monophosphate deaminase 1provided by HGNC Primary source HGNC:HGNC:468 See related Ensembl:ENSG00000116748 MIM:102770; AllianceGenome:HGNC:468 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all