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MGP000331

Record overview

MGPD IDMGP000331
Gene ID669
SpeciesHomo sapiens (Human)
Gene Name2,3-bisphosphoglycerate mutase
Gene Symbol BPGM
SynonymsDPGM;
Alternate namesbisphosphoglycerate mutase; BPG-dependent PGAM; 2,3-diphosphoglycerate mutase; 2,3-bisphosphoglycerate synthase; erythrocyte 2,3-bisphosphoglycerate mutase; 2,3-bisphosphoglycerate mutase, erythrocyte;
Chromosome7
Map Location7q33
EC Number5.4.2.4
Summary2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
OrthologsView orthologs and multiple alignments for BPGM

Proteins

bisphosphoglycerate mutase
Refseq ID:NP_954655
Protein GI:40353764
UniProt ID:P07738
mRNA ID:NM_199186
Length:259
RefSeq Status:
MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNR
EQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLE
GISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK
 
bisphosphoglycerate mutase
Refseq ID:NP_001280014
Protein GI:641386940
UniProt ID:P07738
mRNA ID:NM_001293085
Length:259
RefSeq Status:
Protein sequence is identical to GI:40353764 (mRNA isoform)
 
bisphosphoglycerate mutase
Refseq ID:NP_001715
Protein GI:4502445
UniProt ID:P07738
mRNA ID:NM_001724
Length:259
RefSeq Status:
Protein sequence is identical to GI:40353764 (mRNA isoform)
 
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