Version: 8.0.0
Date: Tue Jan 28 2025
ALAD
Homo sapiensHGNC:395
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ALAD

Species
Homo sapiens
Symbol
ALAD
Name
aminolevulinate dehydratase
Synonyms
  • ALADH
  • aminolevulinate, delta-, dehydratase
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity; porphobilinogen synthase activity; and zinc ion binding activity. Involved in heme biosynthetic process; negative regulation of proteasomal protein catabolic process; and protein homooligomerization. Located in extracellular exosome and nucleus. Implicated in porphyria cutanea tarda and sickle cell anemia. Biomarker of liver cirrhosis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11458
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          ALAD molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            ALAD role
            ALAD genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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