Gene: [01p13/AMPD1] adenosine monophosphate deaminase 1 (isoform M); exercise-related myopathy (AMPD-muscle deficiency);
COM | SWISSPORT indicates EC:3.5.4.6 for the products of AMPD genes (see GEM:01p/AMPD2). This corresponds to AMP deaminase (AMP deaminase: AMP+H2O=IMP+NH3)." |
FUN | Systematic name: adenosine(phosphate) aminohydrolase. The reaction catalyzed: 5'-AMP + H(2)O = 5'-IMP + NH(3)." |
REF | PRO,LOC,FAG "Morton &: CCG, 51, (HGM10), 1048,
1989 |
SWI | SWISSPROT: P23109 |
KEY | ant, nucm, myo |
CLA | coding, basic |
LOC | 01 p13 |
MIM | MIM: 102770 |
EZN | ENZYME: 3.5.4.17 |
