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

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