Delta-Aminolevulinic Acid Dehydratase (ALAD) ELISA Kit for Human

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]

ALAD: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. Defects in ALAD are the cause of acute hepatic porphyria (AHEPP). A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralysis, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Belongs to the ALADH family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 4.2.1.24; Lyase

Chromosomal Location of Human Ortholog: 9q32

Cellular Component: cytosol; extracellular region; nucleus; proteasome core complex

Molecular Function: catalytic activity; identical protein binding; porphobilinogen synthase activity; zinc ion binding

Biological Process: heme biosynthetic process; neutrophil degranulation; protein homooligomerization; protoporphyrinogen IX biosynthetic process; response to activity; response to aluminum ion; response to amino acid; response to arsenic; response to cadmium ion; response to cobalt ion; response to drug; response to ethanol; response to glucocorticoid stimulus; response to herbicide; response to hypoxia; response to ionizing radiation; response to iron ion; response to lipopolysaccharide; response to mercury ion; response to methylmercury; response to oxidative stress; response to selenium ion; response to vitamin B1; response to vitamin E; response to zinc ion

Disease: Porphyria, Acute Hepatic