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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