Gene: [12p13/TPI] triosephosphate isomerase; nonspherocytic hemolytic anemia, Dacie's type II;

COM

The expression of two isoenzymes of triosephosphate isomerase (A and B) occurs not at two different loci, as it was thought previously (Yyan-1979; see also HGM5), but at a single locus (Decker-1981; see also HGM8)."

GEN

The gene length is 3.5 kb.

FUN

[1] Systematic name: D-glyceraldehyde 3-phosphate ketol-isomerase. Catalyzes reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate.
[2] An active enzyme is a homodimer; the monomer consists of 248 amino acid residues."

REF

PAT,MEB,PHE,FOG "Asakawa &: Hum Genet, 71, 22-26, 1985
GEN,SEQ,TRC,ENG "Boyer TG &: JBC, 264, N9, 5177-5187, 1989
PRO,GEN,MOP,FAG "Brown JR &: Mol Cell Biol, 5, 1694-1706, 1985
PAT,MEB,PHE,FOG "Clay &: Am J Dis Child, 136, 800-802, 1982
MUT,MOL "Daar IO &: PNAS, 83, N20, 7903-7907, 1986
PAT,MEB,PHE,FOG "Decker, Mohrenweiser: Hum Genet, 33, 683-691, 1981
PAT,MEB,PHE,FOG "Eber &: Hum Genet, 67, 336-339, 1984
PAT,MEB,PHE,FOG "Eber &: Eur J Clin Invest, 9, 195-202, 1979
LOC,CYG "Herbschleb-Voogt E &: CCG, 22, (HGM4), 482-486, 1978
FUN,PEP,MOP "Lu HS &: JBC, 259, N19, 11958-11968, 1984
PRO,SEQ,EXP "Maquat LE &: JBC, 260, N6, 3748-3753, 1985
LOC,CYG "Rethore MO &: Hum Genet, 36, 235-237, 1977
LOC,CYG "Rethore MO &: Ann Genet, 19, 140-142, 1976
PAT,MEB,PHE,FOG "Rosa &: Hum Genet, 71, 235-240, 1985
PAT,MEB,PHE,FOG "Schneider &: New Engl J Med, 272, 229-235, 1965
LOC,CYG "Serville F &: Hum Genet, 45, 63-69, 1978
PAT,MEB,PHE,FOG "Vives-Corrons &: Hum Genet, 42, 171-180, 1978
FUN,PEP,MOP "Yuan &: Arch Biochem Biophys, 198, 42-52, 1979
PAT,MEB,PHE,FOG "Zanella &: Scand J Haematol, 34, 417-424, 1985

SWI

 SWISSPROT: P00938

KEY

glyc, hem, neu

CLA

coding, basic

LOC

12 p13

MIM

 MIM: 190450

EZN

 ENZYME: 5.3.1.1