Full name: aminolevulinate dehydratase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ALADH; PBGS

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]

Expression: Ubiquitous expression in adrenal (RPKM 60.0), liver (RPKM 56.7) and 25 other tissues

Gene size: 14973bp

Exon count: 15