Gene AMPD1
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Also known as
MAD, MADA, MMDDOverview
AMPD1 is a gene that codes for the AMP deaminase 1 enzyme, which plays a crucial role in the regulation of cellular energy metabolism. This enzyme catabolizes adenosine monophosphate (AMP) to inosine monophosphate (IMP), thereby controlling the levels of AMP in cells. AMP is a molecule that acts as a signal of energy stress and low energy levels, and its levels increase during intense physical activity or other metabolic stressors. The AMPD1 enzyme is particularly active in muscle cells, where it helps to regulate energy metabolism during exercise. Mutations in the AMPD1 gene have been linked to several disorders, including myoadenylate deaminase deficiency, a rare genetic condition that affects muscle function and energy metabolism.