Gene: [16q222/ALDOA] aldolase A, fructose-bisphosphate; anemia hemolytic (aldolase A deficiency);
FUN | Systematic name: D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase. The catalyzed reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde." |
FAG | The genome contains one coding gene for aldolase A and two processed pseudogenes (GEM:03^/ALDOAP1; GEM:10q/ALDOAP2). These three sequences are identified with the corresponding probes (Tolan-1987; Serero-1988) in EcoRI endonuclease genomic DNA hydrolysate, within the following fragments: 13.3 kb (coding ALDOA gene), 8 kb (7.8-8.1; ALDOAP2), and >30 kb (ALDOAP1)." |
GEN | The gene length is 7.6 kb. |
EAG | See FAM:ALDO/00.0. |
PSG | GEM:03^/ALDOAP1, GEM:10q/ALDOAP2. |
REF | HIS,PHE,PAT "Beutler
&: Trans Assoc Am Phys, 86, 154-166, 1973 LOC "Cohen-Haguenauer &: CCG, 40, (HGM8), 605, 1985 GEN,SEQ,EXP "Izzo P &: Eur J Biochem, 174, 569-578, 1988 PRO,MUT,MOP "Kishi H &: PNAS, 84, N23, 8623-8627, 1987 MUT,PAT "Kreuder J &: New Engl J Med, 334, 1100-1104, 1996 LOC,MOL,PRO "Kukita A &: Hum Genet, 76, 20-26, 1987 GEN,EVO "Maire P &: J Mol Biol, 197, 425-438, 1987 PHE,FOG "Miwa &: Am J Hematol, 11, 425-437, 1981 PRO,SEQ,EXP "Sakakibara M &: BBRC, 131, N1, 413-420, 1985 FAG,LOC "Serero S &: Hum Genet, 78, 167-174, 1988 EVO,FAG,LOC "Tolan DR &: AJHG, 41, 907-924, 1987 |
SWI | SWISSPROT: P04075 |
KEY | hem, mtbd, glyc |
CLA | coding, basic |
LOC | 16 q22.2 |
MIM | MIM: 103850 |
EZN | ENZYME: 4.1.2.13 |
