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 |
