Gene Symbol | AMPD1 |
Entrez Gene ID | 270 |
Full Name | adenosine monophosphate deaminase 1 |
Synonyms | MAD,MADA,MMDD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Myopathy due to myoadenylate deaminase deficiency, 615511 (3) |