MGP Database

MGP002261

Record overview

MGPD IDMGP002261
Gene ID5224
SpeciesHomo sapiens (Human)
Gene Namephosphoglycerate mutase 2 (muscle)
Gene Symbol PGAM2
SynonymsGSD10; PGAMM; PGAM-M;
Alternate namesphosphoglycerate mutase 2; BPG-dependent PGAM 2; muscle-specific phosphoglycerate mutase; phosphoglycerate mutase isozyme M;
Chromosome7
Map Location7p13-p12
EC Number3.1.3.13
SummaryPhosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
OrthologsView orthologs and multiple alignments for PGAM2

Proteins

phosphoglycerate mutase 2
Refseq ID:NP_000281
Protein GI:50593010
UniProt ID:P15259
mRNA ID:NM_000290
Length:253
RefSeq Status:
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNK
AETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGM
SDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK
 
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