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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