ALAD

Delta-aminolevulinic acid dehydratase UniProt accession P13716

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

Source: UniProt

Homooctamer; active form. Homohexamer; low activity form

Source: UniProt
Cytoplasm, cytosol
Source: UniProt
  • 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, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

Source: UniProt
  • Heme biosynthesis
  • Neutrophil degranulation
Source: Reactome via UniProt

Mutations

No mutation information available.

Synthetic Lethal Network

Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to ALAD, aggregated across our SSL data sources. Click any partner node to view that gene’s page.

Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.

BioGRID SLOrth SynLethDB MexDrugs Multi-source
Sources: BioGRID, SLOrth, SynLethDB, MexDrugs

Clinical Trials

Total Trials Found: 2

NCT ID Condition Brief Title Phase Status
NCT03547297 Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP), Porphyria Acute INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP N/A TERMINATED
NCT04056481 Acute Hepatic Porphyria Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria N/A APPROVED_FOR_MARKETING
NCT07538336 Lung Transplant Targeting Interferon Gamma With Emapalumab to Lung Transplant Recipients With Interferon Gamma-high Acute Lung Allograft Dysfunction PHASE2 NOT_YET_RECRUITING
NCT03338816 Acute Hepatic Porphyria, Acute Intermittent Porphyria, Porphyria, Acute Intermittent, Acute Porphyria, Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP) ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) PHASE3 COMPLETED
NCT01561157 Acute Porphyrias, Cutaneous Porphyrias Longitudinal Study of the Porphyrias N/A RECRUITING