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Aliases for ALAD Gene

Aliases for ALAD Gene

  • Aminolevulinate Dehydratase 2 3 5
  • Porphobilinogen Synthase 2 3 4
  • Aminolevulinate, Delta-, Dehydratase 2 3
  • ALADH 3 4
  • Delta-Aminolevulinic Acid Dehydratase 3
  • Testicular Tissue Protein Li 95 3
  • EC 4
  • PBGS 3

External Ids for ALAD Gene

Previous GeneCards Identifiers for ALAD Gene

  • GC09M106947
  • GC09M107880
  • GC09M109602
  • GC09M111524
  • GC09M113228
  • GC09M115188
  • GC09M116148
  • GC09M085755

Summaries for ALAD Gene

Entrez Gene Summary for ALAD Gene

  • 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]

GeneCards Summary for ALAD Gene

ALAD (Aminolevulinate Dehydratase) is a Protein Coding gene. Diseases associated with ALAD include Porphyria, Acute Hepatic and Porphyria. Among its related pathways are Metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding and lead ion binding.

UniProtKB/Swiss-Prot for ALAD Gene

  • 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.

Gene Wiki entry for ALAD Gene

Additional gene information for ALAD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALAD Gene

Genomics for ALAD Gene

GeneHancer (GH) Regulatory Elements for ALAD Gene

Promoters and enhancers for ALAD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J113396 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 661.9 +2.0 1988 5.7 HDGF FOXA2 PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ALAD PRPF4 RGS3 POLE3 HDHD3
GH09J113403 Enhancer 0.2 Ensembl 650.7 -2.0 -1963 0.2 ALAD C9orf43
GH09J113591 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 16.5 -196.1 -196050 12.8 HDGF FOXA2 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 FOS SP3 RGS3 C9orf43 ALAD RNF183 LOC105376221 LOC105376222
GH09J113500 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 15.1 -102.1 -102136 6.3 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 RXRA RGS3 C9orf43 ALAD RNF183 GC09P114257
GH09J113372 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.5 +23.3 23338 11.9 HDGF PKNOX1 CLOCK FOXA2 ARNT MLX ARID4B SIN3A DMAP1 YBX1 HDHD3 RGS3 PRPF4 C9orf43 POLE3 RNF183 ALAD CDC26 BSPRY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALAD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALAD gene promoter:
  • GR-alpha
  • GR
  • ITF-2
  • IRF-2
  • Tal-1beta
  • HFH-1
  • deltaCREB
  • HOXA5

Genomic Locations for ALAD Gene

Genomic Locations for ALAD Gene
15,027 bases
Minus strand
15,027 bases
Minus strand

Genomic View for ALAD Gene

Genes around ALAD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALAD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALAD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALAD Gene

Proteins for ALAD Gene

  • Protein details for ALAD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Delta-aminolevulinic acid dehydratase
    Protein Accession:
    Secondary Accessions:
    • A8K375
    • B2R6F2
    • Q16870
    • Q16871
    • Q9BVQ9

    Protein attributes for ALAD Gene

    330 amino acids
    Molecular mass:
    36295 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homooctamer; active form. Homohexamer; low activity form.
    • Sequence=AAH00977.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALAD Gene

    Alternative splice isoforms for ALAD Gene


neXtProt entry for ALAD Gene

Post-translational modifications for ALAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALAD Gene

Domains & Families for ALAD Gene

Gene Families for ALAD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ALAD Gene

Suggested Antigen Peptide Sequences for ALAD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ALAD family.
  • Belongs to the ALAD family.
genes like me logo Genes that share domains with ALAD: view

Function for ALAD Gene

Molecular function for ALAD Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
2 5-aminolevulinate = porphobilinogen + 2 H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Can alternate between a fully active homooctamer and a low-activity homohexamer. A bound magnesium ion may promote the assembly of the fully active homooctamer. The magnesium-binding site is absent in the low-activity homohexamer. Inhibited by compounds that favor the hexameric state. Inhibited by divalent lead ions. The lead ions partially displace the zinc cofactor.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.09 mM for 5-aminolevulinate at pH 7 {ECO:0000269 PubMed:11032836}; Vmax=43 umol/h/mg enzyme at pH 7 {ECO:0000269 PubMed:11032836}; pH dependence: Optimum pH is 6.8-7.3. {ECO:0000269 PubMed:11032836};
GENATLAS Biochemistry:
delta-aminolevulinate dehydratase,cytosolic enzyme catalyzing porphibilinogen formation,second step of porphyrin biosynthesis

Enzyme Numbers (IUBMB) for ALAD Gene

Phenotypes From GWAS Catalog for ALAD Gene

Gene Ontology (GO) - Molecular Function for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA,TAS 2063868
GO:0004655 porphobilinogen synthase activity IEA,TAS --
GO:0008270 zinc ion binding IDA 11032836
GO:0016829 lyase activity IEA --
GO:0042802 identical protein binding IPI 11032836
genes like me logo Genes that share ontologies with ALAD: view
genes like me logo Genes that share phenotypes with ALAD: view

Human Phenotype Ontology for ALAD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAD

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALAD Gene

Localization for ALAD Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALAD gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus HDA 21630459
GO:0005829 cytosol TAS,IBA --
GO:0005839 proteasome core complex IEA --
genes like me logo Genes that share ontologies with ALAD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ALAD Gene

Pathways & Interactions for ALAD Gene

genes like me logo Genes that share pathways with ALAD: view

Pathways by source for ALAD Gene

UniProtKB/Swiss-Prot P13716-HEM2_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4.

Gene Ontology (GO) - Biological Process for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0006979 response to oxidative stress IEA --
genes like me logo Genes that share ontologies with ALAD: view

No data available for SIGNOR curated interactions for ALAD Gene

Drugs & Compounds for ALAD Gene

(38) Drugs for ALAD Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma Target, inducer 170
Water Approved Pharma 0
Porphobilinogen Experimental Pharma Target 0
3-(2-Aminoethyl)-4-(Aminomethyl)Heptanedioic Acid Experimental Pharma Target 0
4,7-Dioxosebacic Acid Experimental Pharma Target 0

(24) Additional Compounds for ALAD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Formyl coenzyme A
  • Formyl-coenzyme A
genes like me logo Genes that share compounds with ALAD: view

Transcripts for ALAD Gene

Unigene Clusters for ALAD Gene

Aminolevulinate dehydratase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAD

Alternative Splicing Database (ASD) splice patterns (SP) for ALAD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - -
SP14: - - - - - -
SP15: -

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: -

Relevant External Links for ALAD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALAD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALAD Gene

This gene is overexpressed in Adrenal Gland (x4.5).

Protein differential expression in normal tissues from HIPED for ALAD Gene

This gene is overexpressed in Liver, secretome (18.0) and Salivary gland (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALAD Gene

Protein tissue co-expression partners for ALAD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALAD Gene:


SOURCE GeneReport for Unigene cluster for ALAD Gene:


Evidence on tissue expression from TISSUES for ALAD Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Blood(4.6)
  • Kidney(3.5)
  • Bone marrow(2.4)
  • Adrenal gland(2.3)
  • Urine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALAD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • head
  • esophagus
  • lung
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ALAD: view

No data available for mRNA Expression by UniProt/SwissProt for ALAD Gene

Orthologs for ALAD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALAD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALAD 34 33
  • 99.19 (n)
(Canis familiaris)
Mammalia ALAD 34 33
  • 89.9 (n)
(Bos Taurus)
Mammalia ALAD 34 33
  • 89.56 (n)
(Mus musculus)
Mammalia Alad 16 34 33
  • 87.17 (n)
(Rattus norvegicus)
Mammalia Alad 33
  • 86.16 (n)
(Ornithorhynchus anatinus)
Mammalia ALAD 34
  • 85 (a)
(Monodelphis domestica)
Mammalia ALAD 34
  • 85 (a)
(Gallus gallus)
Aves HDHD3 33
  • 75.25 (n)
(Anolis carolinensis)
Reptilia ALAD 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia alad 33
  • 72.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10336 33
(Danio rerio)
Actinopterygii alad 34 33
  • 67.99 (n)
Dr.13193 33
fruit fly
(Drosophila melanogaster)
Insecta Pbgs 34 33
  • 62.38 (n)
CG10335 35
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010935 33
  • 60.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR015C 33
  • 56.31 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09273g 33
  • 52.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM2 34 33
  • 52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEMB1 33
  • 49.39 (n)
(Glycine max)
eudicotyledons Gma.6038 33
(Oryza sativa)
Liliopsida Os06g0704600 33
  • 49.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5256 34
  • 62 (a)
Cin.7086 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01013 33
  • 56.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem2 33
  • 53.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7086 33
Species where no ortholog for ALAD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALAD Gene

Gene Tree for ALAD (if available)
Gene Tree for ALAD (if available)
Evolutionary constrained regions (ECRs) for ALAD: view image

Paralogs for ALAD Gene

No data available for Paralogs for ALAD Gene

Variants for ALAD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALAD Gene

Genetic variation in ALAD influences susceptibility to lead poisoning in individuals exposed to high amount of environmental lead. There are two common alleles: allele ALAD*1 and allele ALAD*2 resulting in 3 isozymes: ALAD 1-1, ALAD 1-2, and ALAD 2-2. Individuals with ALAD 1-2 or ALAD 2-2 isozymes have levels of blood lead higher than those in individuals with ALAD 1-1 isozyme. The sequence shown corresponds to allele ALAD*1.

Sequence variations from dbSNP and Humsavar for ALAD Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1028012464 uncertain-significance, Porphobilinogen synthase deficiency 113,386,669(-) C/T 3_prime_UTR_variant
rs1054563732 uncertain-significance, Porphobilinogen synthase deficiency 113,388,962(-) C/T intron_variant
rs1139488 benign, Porphobilinogen synthase deficiency 113,391,620(-) A/G coding_sequence_variant, synonymous_variant
rs121912980 pathogenic, Porphobilinogen synthase deficiency, Acute hepatic porphyria (AHEPP) [MIM:612740] 113,390,798(-) C/T coding_sequence_variant, missense_variant
rs121912981 pathogenic, Porphobilinogen synthase deficiency, Acute hepatic porphyria (AHEPP) [MIM:612740] 113,389,085(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ALAD Gene

Variant ID Type Subtype PubMed ID
esv3621540 CNV gain 21293372
nsv615214 CNV gain 21841781
nsv825053 CNV loss 20364138

Variation tolerance for ALAD Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALAD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for ALAD Gene

MalaCards: The human disease database

(18) MalaCards diseases for ALAD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria, acute hepatic
  • delta-aminolevulinate dehydratase deficiency
  • disorder of porphyrin and hem metabolism
porphyria cutanea tarda
  • pct
aminolevulinic acid dehydratase deficiency porphyria
tyrosinemia, type i
  • tyrsn1
- elite association - COSMIC cancer census association via MalaCards
Search ALAD in MalaCards View complete list of genes associated with diseases


  • Acute hepatic porphyria (AHEPP) [MIM:612740]: 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. {ECO:0000269 PubMed:10706561, ECO:0000269 PubMed:1309003, ECO:0000269 PubMed:1569184, ECO:0000269 PubMed:17236137, ECO:0000269 PubMed:2063868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ALAD Gene


Additional Disease Information for ALAD

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALAD: view

Publications for ALAD Gene

  1. Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis. (PMID: 17966070) Zhao Y … Chen F (Journal of toxicology and environmental health. Part A 2007) 3 4 22 44 58
  2. Association between blood lead and the risk of amyotrophic lateral sclerosis. (PMID: 20406759) Fang F … Kamel F (American journal of epidemiology 2010) 3 22 44 58
  3. Allosteric inhibition of human porphobilinogen synthase. (PMID: 19812033) Lawrence SH … Jaffe EK (The Journal of biological chemistry 2009) 3 4 22 58
  4. Association between a polymorphism of aminolevulinate dehydrogenase (ALAD) gene and blood lead levels in Japanese subjects. (PMID: 19440429) Miyaki K … Nakayama T (International journal of environmental research and public health 2009) 3 22 44 58
  5. [Study of ALAD and VDR gene polymorphisms associated with lead nephrotoxicity susceptibility]. (PMID: 19548578) Wang A … Xu J (Wei sheng yan jiu = Journal of hygiene research 2009) 3 22 44 58

Products for ALAD Gene

Sources for ALAD Gene

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