Gene: [10q22/HK1] hexokinase 1 (brain); hemolytic anemia due to hexokinase deficiency (MIM:235700);
|
FAG |
[1] Electrophoresis reveals four isoforms of hexokinase (HK) in human:
HK1 and HK2, constitutive isoforms expressed in various tissues (GEM:02p131/HK2);
HK3, a leukocytic isoform (Povey-1975; GEM:05q352/HK3);
HK4, liver and pancreatic isoforms (glucokinase), see GEM:07p13/GCK.
[2] See also GEM:00.0/HK2P." |
|
PAT |
Hemolytic anemia as the expression of hexokinase deficiency is described in MIM:235700 (among the markers with recessive inheritance)." |
|
REF |
PAT,PHE,FOG,POL "Altay &: Blood, 36, 219-227, 1970 PAT,PHE,FOG,POL "Board &: Blood, 51, 111-118, 1978 LOC,CYG "Chern CJ: CCG, 17, 338-342, 1976 LOC,CYG "Dallapiccola B &: Hum Hered, 34, 156-160, 1984 LOC,CYG "Dallapiccola B &: Ann Genet, 24, 45-47, 1981 LOC "Daniele A &: Hum Hered, 42, N2, 107-110, 1992 PAT,PHE,FOG,POL "Gelsanz &: Am J Dis Child, 132, 636-637, 1978 LOC,CYG "Gitelman BJ, Simpson: Hum Genet, 60, 227-229, 1982 LOC,CYG "Gitelman BJ &: AJHG, 32, 41A, 1980 LOC,CYG "Junien &: Ann Genet, 22, N1, 50-52, 1979 PAT,PHE,FOG,POL "Keitt AS: J Clin Invest, 48, 1997-2007, 1969 PAT,PHE,FOG,POL "Magnani &: Blood, 66, 690-697, 1985a PAT,PHE,FOG,POL "Magnani &: Brit J Haematol, 61, 41-50, 1985b LOC,CYG "Magnani M, Dallapiccola B: Hum Genet, 62, 181, 1982 PAT,PHE,FOG,POL "Necheles &: J Lab Clin Med, 76, 593-602, 1970 CLO,COD,SEQ,PEP,EXP,EVO "Nishi S &: BBRC, 157, 937-943, 1988 PAT,PHE,FOG,POL "Paglia &: Am J Hematol, 10, 107-117, 1981 FAG "Povey &: Ann Hum Genet, 38, 407-415, 1975 PAT,PHE,FOG,POL "Rijksen &: Blood, 61, 12-18, 1983 PAT,PHE,FOG,POL "Rijksen, Staal: J Clin Invest, 62, 294-301, 1978 PAT,PHE,FOG,POL "Ritter &: Humangenetik, 22, 265-266, 1974 PAT,PHE,FOG,POL "Rogers &: Biochem Genet, 13, 857-866, 1975 CLO,PRO,LOC,MOL "Shows TB &: CCG, 51, (HGM10), 1079, 1989 LOC,CYG "Shows TB: CCG, 13, (HGM1), 143-145, 1974 PAT,PHE,FOG,POL "Siimes &: Scand J Haematol, 22, 214-218, 1979 LOC,CYG "Snyder FF &: Hum Genet, 67, 187-189, 1984 PAT,PHE,FOG,POL "Valentine &: New Engl J Med, 276, 1-11, 1967 |
|
KEY |
carb, glyc, hem, mtbd |
|
CLA |
coding, basic |
|
LOC |
10 q22 |
|
MIM |
MIM: 142600 |
|
EZN |
ENZYME: 2.7.1.1 |
