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AMPD1
adenosine monophosphate deaminase 1
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.
| Gene Name: | adenosine monophosphate deaminase 1 |
| Synonyms: | AMPD1, AMP deaminase isoform M, AMP deaminase 1, AMPD, Skeletal muscle AMPD, MAD, MADA, Myoadenylate deaminase |
| Target Sequences: | NM_000036 NP_000027.2 P23109 |
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