AMPD1
AMPD1 encodes the skeletal-muscle isoform of AMP deaminase, an enzyme in the purine nucleotide cycle that helps regenerate ATP and buffer energy demand in muscle during intense exertion. The common loss-of-function variant rs17602729 (Gln12Ter) ablates enzyme activity in homozygotes, making AMPD1 deficiency one of the most common inherited enzyme deficiencies in Europeans (~1 in 55 homozygous). Population-based studies find the large majority of homozygotes are asymptomatic.
Traits AMPD1 shapes
Markers (rsIDs)
Reference databases
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