Gene

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 (C34T) causes partial AMPD1 deficiency, which is associated with exercise-induced muscle fatigue and greater susceptibility to muscle soreness and soft-tissue injury.

Traits AMPD1 shapes

Exercise muscle-energy enzyme (AMPD1)

Markers (rsIDs)

rs17602729

Reference databases

HGNC gene symbol report: AMPD1
NCBI Gene: AMPD1

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This page is for educational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Genetic results describe tendencies and predispositions, not diagnoses. Always consult a licensed clinician before making decisions about your health, medications, or supplements.