Gene: [01q/PFKM] phosphofructokinase, muscle type (muscle phosphohexokinase); glycogen storage disease VII (Tarui disease);
FUN | [1]
Systematic name: ATP:D-fructose 6-phosphate 1-phosphotransferase. [2] Catalyzes the first reaction in glycolysis: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate. UTP, CTP and ITP can act as donors." |
MOP | An active phosphofructokinase is formed as a homo- or heterotetramer of peptide products of different genes. The two main isoforms, the fibroblast and the erythrocyte ones are the combinations of several M, L, and P subunits. Moreover, many minor isoforms exist within each of the types (e.g., for the erythrocyte isoform, these are M4, M3L, M2L2, ML3, and L4; and for the platelet one, they are P4, P3L, and P2L2)." |
FAG | The following PFK-genes are known: PFK M - muscle type, this gene; P - platelet/fibroblast type, GEM:10p15/PFKP, MIM:171840; L - liver type, GEM:21q223/PFKL, MIM:171860; X - unspecified type (polypeptide X), GEM:12^/PFKX, MIM:171880; B1 - muscle/liver type, GEM:0Xp1121/PFKFB1, MIM:311790; and B2 - heart type, GEM:01q32/PFKFB2; MIM:171835." |
PAT | Clinical manifestation of the hereditary deficiency is related to the PFK-M deficiencies (myopathy and hemolysis in glycogen storage disease VII, or Tarui disease). In this case, it is the erythrocyte and muscle isoforms that are predominantly altered. This results in a great variety of manifestations: isolated myopathy variants without hemolysis, myopathy with moderate hemolysis, and variants with predominantly hemolytic symptoms without explicit myopathy. Asymptomatic cases of deficiency of other subunits have been described." |
REF | PAT,PHE,FOG "Danon &:
Neurology, 31, 1303-1307, 1981 PAT,PHE,FOG "Davidson &: J Clin Invest, 72, 545-550, 1983 IDN,PAT,PHE "Layzer &: Arch Neurol, 17, 512-523, 1967 PAT,PHE,FOG "Mineo &: New Engl J Med, 317, 75-80, 1987 CLO,SEQ,EXP "Nakajima H &: FEBS Lett, 223, 113-116, 1987 IDN,PAT,PHE "Nishikawa &: Proc Jpn Acad Sci, 41, 350-353, 1965 PAT,PHE,FOG "Servidei &: Neurology, 36, 1465-1470, 1986 CLO,COD,SEQ,EXP "Sharma PM &: Gene, 77, 177-183, 1989 PAT,PHE,FOG "Tani &: Am J Hematol, 14, 165-174, 1983 IDN,PAT,PHE "Tarui &: BBRC, 19, 517-523, 1965 CLO,GEN,EVO "Valdez BC &: Gene, 76, 167-169, 1989 PAT,PHE,FOG "Vora S &: J Clin Invest, 80, 1479-1485, 1987 PAT,PHE,FOG "Vora S &: J Clin Invest, 72, 1995-2006, 1983 LOC,CYG "Vora S &: Somat Cell Genet, 8, 95-104, 1982 PAT,PHE,FOG "Vora S &: Blood, 55, 629-635, 1980 PAT,PHE,FOG "Zanella &: Am J Hematol, 12, 215-225, 1982 |
SWI | SWISSPROT: P08237 |
KEY | glyc, mtbd, hem, neu |
CLA | coding, basic |
LOC | 01 c-q32 |
MIM | MIM: 232800 |
EZN | ENZYME: 2.7.1.11 |
