Gene: [09q34/ALAD] delta-aminolevulinate dehydratase (porphobilinogen synthase); porphyria, acute hepatic;
FUN | Systematic name: 5-aminolevulinate hydrolyase (adding 5-aminolevulinate and cyclizing). Catalyzes reaction: 2 5-aminolevulinate = porphobilinogen + 2 H(2)O." |
HET | Several loci responsible for different types of porphyria are mapped in the human genome. On the classification of hereditary porphyrias, see GEM:01p34/UROD." |
REF | LIN,REL "Amorim A &: CCG, 37, (HGM7), 400, 1984 LOC "Beaumont C &: Ann Hum Genet, 48, 153-159, 1984 HIS "Bird &: AJHG, 31, 662-668, 1979 PHE,FOG "Doss &: Clin Genet, 30, 191-198, 1986 HIS "Doss &: Klin Wschr, 57, 1123-1127, 1979 MAP "Eiberg H &: Clin Genet, 23, 150-154, 1983 LIN,REL "Falk CT &: CCG, 37, (HGM7), 466-467, 1984 LOC,REL "Florian F &: Somat Cell Mol Genet, 17, 445-453, 1991 LOC,REL "Harris RM &: CCG, 58, 1940, 1991 LOC,REL "Potluri VR &: Hum Genet, 76, 236-239, 1987 LOC "Wang AL &: Hum Genet, 70, 6-10, 1985 CLO,PRO "Wetmur JG &: Gene, 43, 123-130, 1986a SEQ,MOP "Wetmur JG &: PNAS, 83, N20, 7703-7707, 1986b |
SWI | SWISSPROT: P13716 |
KEY | hem, mtbd |
CLA | coding, basic |
LOC | 09 q34 |
MIM | MIM: 125270 |
EZN | ENZYME: 4.2.1.24 |
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