ALAD Chromosome 9
Aminolevulinate dehydratase
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What This Gene Does
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]
Associated Conditions (7)
Porphobilinogen synthase deficiency
PORPHYRIA
ACUTE HEPATIC
DIGENIC
Acute myeloid leukemia
Inborn genetic diseases
ALAD-related disorder
Key Variants
RS11789221
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS121912984
Conflicting classifications of pathogenicity
PORPHYRIA, ACUTE HEPATIC, DIGENIC
Health Risk
RS190497588
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS201135240
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Acute myeloid leukemia, Porphobilinogen synthase deficiency
Health Risk
RS202213170
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369933664
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS376714503
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS377534006
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, ALAD-related disorder, Porphobilinogen synthase deficiency
Health Risk
RS766501537
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Inborn genetic diseases, Porphobilinogen synthase deficiency
Health Risk
RS886063364
Conflicting classifications of pathogenicity
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS121912980
Likely pathogenic
Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
Health Risk
RS1454432774
Likely pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11789221 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS121912984 | Health Risk | Conflicting classifications of pathogenicity | PORPHYRIA, ACUTE HEPATIC, DIGENIC |
| RS190497588 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS201135240 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Acute myeloid leukemia, Porphobilinogen synthase deficiency |
| RS202213170 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369933664 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS376714503 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS377534006 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, ALAD-related disorder, Porphobilinogen synthase deficiency |
| RS766501537 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Inborn genetic diseases, Porphobilinogen synthase deficiency |
| RS886063364 | Health Risk | Conflicting classifications of pathogenicity | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS121912980 | Health Risk | Likely pathogenic | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS1454432774 | Health Risk | Likely pathogenic | — |
| RS2490398166 | Health Risk | Likely pathogenic | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS121912983 | Health Risk | Pathogenic | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |
| RS749066913 | Health Risk | Pathogenic | Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency |