Gene: [07p1/PGAM2] phosphoglycerate mutase 2 (muscle); myopathy due to muscle phosphoglycerate mutase deficiency;
COM | MIM and some papers indicate an old code, EC:2.7.5.3. |
FAG | A gene for another isoform has been mapped to Chr 10q (GEM:10q253/PGAM1). |
FUN | [1] Systematic name:
2-phospho-D-glycerate 2,3-phosphomutase. [2] The reaction catalyzed: 2-phospho-D-glycerate + 2,3-diphosphoglycerate = = 3-phospho-D-glycerate + 2,3-diphosphoglycerate." |
REF | IDN,PAT "Di Mauro &:
Neurology, 32, 584-591, 1982 IDN,PAT "Di Mauro &: Science, 212, 1277-1279, 1981 PRO,LOC,FAG "Mattei &: CCG, 51, (HGM10), 1041, 1989 CLO,SEQ,FAG,EXP "Shanske S &: JBC, 262, 14612-14617, 1987 |
SWI | SWISSPROT: P15259 |
KEY | glyc |
CLA | coding, basic |
LOC | 07 p13-12 |
MIM | MIM: 261670 |
EZN | ENZYME: 5.4.2.1 |
