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Gene

ALAD

aminolevulinate dehydratase

Summary

Cytogenetic location
9q32
Coordinates
Chromosome 9: 113,386,312–113,401,284 (GRCh38)
Exons
12 exons across 15 kb
Protein
330 amino acids
Also known as
ALADH, PBGS
MANE Select transcript
ENST00000409155.8NM_000031.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hepatic Porphyria Disorders

    • Hepatic Porphyria

      A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

  • Porphyria

    • Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Attack prevention through trigger avoidance, IV dextrose or hemin during acute attacks, RNA interference therapy (givosiran), genetic counseling

How ALAD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where ALAD sits. ALAD and 15 genes near it on chromosome 9, from 112,893,798 to 113,893,797.Chromosome 99q32p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3113 Mb113.2 Mb113.4 Mb113.6 Mb113.8 MbZNF883: 112,988,129–113,012,242, reverse strandZNF883ZFP37: 113,038,377–113,056,802, reverse strandZFP37SLC31A2: 113,150,951–113,164,140, forward strandSLC31A2FKBP15: 113,161,006–113,221,458, reverse strandFKBP15SLC31A1: 113,221,191–113,266,935, forward strandSLC31A1CDC26: 113,223,011–113,275,602, reverse strandCDC26PRPF4: 113,275,637–113,295,342, forward strandPRPF4RNF183: 113,297,093–113,303,376, reverse strandRNF183WDR31: 113,313,222–113,340,337, reverse strandWDR31BSPRY: 113,349,515–113,371,233, forward strandHDHD3: 113,373,215–113,377,473, reverse strandHDHD3ALAD: 113,386,312–113,401,284, reverse strandALADPOLE3: 113,407,232–113,410,723, reverse strandPOLE3C9orf43: 113,410,054–113,429,690, forward strandC9orf43RGS3: 113,444,731–113,597,743, forward strandRGS3ZNF618: 113,876,052–114,056,593, forward strandZNF618Diagram of ALAD: 12 exons on the reverse strand of chromosome 9Exon 5: 1 known disease-causing siteExon 12: 113,386,312–113,388,361, 2,050 basesExon 11: 113,388,977–113,389,106, 130 basesExon 10: 113,389,438–113,389,524, 87 basesExon 9: 113,389,599–113,389,686, 88 basesExon 8: 113,389,773–113,389,828, 56 basesExon 7: 113,390,405–113,390,493, 89 basesExon 6: 113,390,593–113,390,676, 84 basesExon 5: 113,390,798–113,390,933, 136 basesExon 4: 113,391,527–113,391,623, 97 basesExon 3: 113,392,119–113,392,169, 51 basesExon 2: 113,393,447–113,393,634, 188 basesExon 1: 113,401,212–113,401,284, 73 bases1210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.1 kb of the gene's 15 kb; 993 of those bases code for the protein.

How a genome test reads ALAD

2

positions in ALAD where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 15 kb of ALAD, introns included, not only the 3.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ALAD gene: aminolevulinate dehydratase. Retrieved 16 October 2026, from https://dantelabs.com/genes/alad

Vancouver

Dante Labs. ALAD gene: aminolevulinate dehydratase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/alad

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