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

Смотрите также:

  • HUGEN-AMP-дезаминаза