ALAD (Entrez ID: 210)

Entrez Gene ID 210
Official Gene Symbol ALAD (GeneCards)
Full name aminolevulinate dehydratase
Location 9q32
Other ids Vega : OTTHUMG00000020522
MIM : 125270
HGNC : HGNC:395
Ensembl : ENSG00000148218
Other names PBGS, ALADH
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]

Variants

Found 2 variants in this database.