PGAM2
entrez
5224
canonical
uniprot
P15259
canonical
ensembl
ENSG00000164708
resolver
ensp
ENSP00000297283
resolver
enst
ENST00000297283
resolver
genesymbol
PGAM2
resolver
genesymbol_syn
PGAMM
resolver
hgnc
HGNC:8889
resolver
uniprot_entry
PGAM2_HUMAN
resolver
amino_acid_sequence
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. {ECO:0000269|PubMed:10545043, ECO:0000269|PubMed:8447317}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.2.11
uniprot
proteins
ec_number
5.4.2.4
uniprot
proteins
function
FUNCTION: Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity. {ECO:0000250|UniProtKB:P18669}.
uniprot
proteins
mass_dalton
28766
uniprot
proteins
protein_family
BPG-dependent PGAM subfamily
uniprot
proteins
protein_family
Phosphoglycerate mutase family
uniprot
proteins
pubmed
10545043
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2145198
uniprot
proteins
pubmed
2549058
uniprot
proteins
pubmed
2822696
uniprot
proteins
pubmed
8447317
uniprot
proteins
sequence_length
253
uniprot
proteins