Browse All / Genes / ALAD

ALAD

aminolevulinate dehydratase
3 disorders 2 untyped 1 no genetic record 9q32 gene with protein product
HGNC:395MonarchNCBI Gene 210ENSG00000148218UniProt P13716OMIM 125270

Aliases: ALADH, PBGS.

Normal function · from ai-gene-review (P13716, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Inherited Porphyria untyped
Causative
mechanism: ALA Dehydratase Block
subtype: Porphyria due to ALA Dehydratase Deficiency
scoped to subtype: Porphyria due to ALA Dehydratase Deficiency
Porphyria due to ALA Dehydratase Deficiency untyped
Causative
mechanism: ALAD block in heme biosynthesis; ALAD conformational and biallelic variant defects
Tyrosinemia Type I no genetic record
mechanism: Succinylacetone inhibition of heme biosynthesis
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
porphyria due to ALA dehydratase deficiency MONDO:0013000 AR Moderate
2025-01-14
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.