Gene: [01q21/PKL] pyruvate kinase, liver/erithrocyte; hemolytic anemia due to piruvate kinase 1 deficiency;

FUN

Systematic name: ATP:pyruvate 2-O-phosphotransferase. The reaction catalyzed: ATP + pyruvate = ADP + phosphoenolpyruvate."

FAG

[1] A gene for muscle pyruvate kinase is mapped to chromosome 15q (GEM:15q2/PKM).
[2] There are four pyruvate kinase isoforms: L, R, M1, and M2. All four isoforms are supposed to be encoded by two genes, PKL and PKM (for liver and muscle pyruvate kinase, respectively) via the alternative splicing."

HET

The MIM catalogue indicates pyruvate kinase 2 (MIM:179040; without a description, as a 'secondary' marker), which represents one of two isoforms encoded by the PKM gene."

REF

PAT,MEB,FOG "Beutler &: Am J Med, 83, 899-904, 1987
HIS,PAT,PHE,FOG "Bowman &: AJHG, 17, N1, 1-8, 1965
HIS,PAT,PHE,FOG "Bowman, Procopio: Ann Int Med, 58, 567-591, 1963
PAT,MEB,FOG "Dacha &: Acta Haematol, 57, 37-46, 1977
PAT,MEB,FOG "Dente &: Clin Chim Acta, 126, 143-154, 1982
PAT,MEB,FOG "Etiemble J &: Am J Hematol, 17, 251-260, 1984
PAT,MEB,FOG "Etiemble J &: Hum Genet, 61, 256-258, 1982
PAT,MEB,FOG "Kahn &: Hum Genet, 57, 172-175, 1981
PAT,MEB,FOG "Lakomek &: Enzyme, 29, 189-197, 1983
GEN,EXP,MUT,MOL "Marie &: Nature, 292, 70-72, 1981
PAT,MEB,FOG "Miwa &: Brit J Haematol, 29, 157-170, 1975
GEN,EXP,MUT,MOL "Muir &: AJHG, 36, 634-639, 1984
GEN,EXP,MUT,MOL "Paglia &: Am J Hematol, 14, 335-344, 1983
LOC,PRO "Satoh H &: CCG, 47, 132-133, 1988
POG,POL,POP "Satoh H &: AJHG, 35, 656-674, 1983
GEN,EXP,MUT,MOL "Schroter &: Hum Genet, 60, 381-386, 1982
GEN,EXP,MUT,MOL "Takegawa &: Brit J Haematol, 54, 467-474, 1983
HIS,PAT,PHE,FOG "Tanaka &: Blood, 19, 267-295, 1962
PRO,SEQ,EXP,LOC "Tani K &: PNAS, 85, N6, 1792-1795, 1988
PRO,SEQ,EXP,LOC "Tani K &: BBRC, 143, 431-438, 1987a
LOC,PRO "Tani K &: CCG, 46, (HGM9), 702, 1987b
GEN,EXP,MUT,MOL "Tsutsumi H &: Genomics, 2, N1, 86-89, 1988
PAT,MEB,FOG "Vives-Corrons &: Hum Genet, 53, 401-408, 1980

KEY

glyc, cytr, hem

CLA

coding, basic

LOC

01 q21

MIM

MIM: 266200

EZN

ENZYME: 2.7.1.40

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