Gene Symbol | ALAD |
Entrez Gene ID | 210 |
Full Name | aminolevulinate dehydratase |
Synonyms | ALADH,PBGS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | Porphyria, acute hepatic, 612740 (3); {Lead poisoning, susceptibility to}, 612740 (3) |