Gene: [0Xq133/PGK1] phosphoglycerate kinase 1; hemolytic anemia due to phosphoglycerate kinase 1 deficiency;


FUN

Systematic name: ATP:3-phospho-D-glycerate phosphotransferase. Catalyzes reaction: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate."

FAG

[1] The functional intronless PGK-2 gene (for testicular phosphoglycerate kinase) which seems to be a retroposon derivative of the aberrant PGK-1 gene localized to chromosome 19 (GEM:19p133/PGK2).
[2] The two PGK pseudogenes are mapped. One of them is mapped to the Chr Xq12 (GEM:0Xq12/PGK1P1), proximal to the PGK1 homolog, and the second is localized to Chr 6p (GEM:06p/PGK1P2) adjacent to the HLA cluster."

REF

MUT "Fujii H &: JBC, 255, 6421-6423, 1980
PHE,PAT "Guis &: Am J Hematol, 25, 175-182, 1987
POL "Hutz MH &: Hum Genet, 66,217-219, 1984
PHE,PAT "Konrad &: J Pediatr, 82, 456-460, 1973
PHE,PAT "Krietsch &: AJHG, 32, 364-373, 1980
CLO,SEQ "Michelson AM &: PNAS, 80, 472-476, 1983a
SEQ,GEN,PEP,EVO "Michelson AM &: PNAS, 82, N20, 6965-6969, 1983b
CLO,PRO "Singer-Sam J &: PNAS, 80, 802-806, 1983
HIS,PHE,FOG "Valentine &: New Engl J Med, 280, 528-534, 1969
LOC,FAG "Willard HF &: Hum Genet, 71, 138-143, 1985

SWI

SWISSPROT: P00558

KEY

hem, mtbd, glyc

CLA

coding, basic

LOC

0X q13.3

MIM

MIM: 311800

EZN

ENZYME: 2.7.2.3

鸯铗痂蝈 蜞赕:

  • PGK-沐
  • 纛耵钽腓鲥疣蜿桧噻 酪-玎忤耔爨-HUGEN