The gene ampd1 encodes adenosine monophosphate deaminase 1, an enzyme that catalyzes the deamination of AMP to IMP in the purine nucleotide cycle. This enzymatic activity influences energy metabolism b...[+]

The gene ampd1 encodes adenosine monophosphate deaminase 1, an enzyme that catalyzes the deamination of AMP to IMP in the purine nucleotide cycle. This enzymatic activity influences energy metabolism by regulating the levels of adenine nucleotides. Expression patterns show its presence during embryogenesis and in various adult tissues including muscle, heart, brain, eye, liver, and kidney. The protein is cytoplasmic. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD