AMPD1 : adenosine monophosphate deaminase 1
Description
The AMPD1 gene encodes the enzyme AMP deaminase 1, a crucial component of purine nucleotide metabolism. This enzyme catalyzes the deamination of AMP to IMP, a step essential for energy production through adenosine triphosphate (ATP) synthesis. AMPD1 plays a vital role in skeletal muscle function, regulating ATP levels and influencing muscle fatigue. Genetic variations in the AMPD1 gene are linked to a range of metabolic disorders, particularly affecting muscle function and exercise capacity.
Associated Diseases
Did you know?
Individuals with specific AMPD1 gene variants are sometimes referred to as "fast twitch" athletes due to their enhanced anaerobic performance.
