AMP deaminase 1
Function
AMP deaminase plays a critical role in energy metabolism.
Involvement in disease
Myopathy due to myoadenylate deaminase deficiency
MMDD
A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
Sequence Similarities
Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Alternative names
AMP deaminase 1, AMP deaminase isoform M, Myoadenylate deaminase, AMPD1