ALAS2

Gene

5'-aminolevulinate synthase 2

HGNCHGNC:397 EnsemblENSG00000158578 NCBI Gene212

Locus: gene with protein productLocation: Xp11.21

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asASB · ALAS-E

View full nomenclature history (6)

Previous symbolsASB

Alias symbolsALAS-E

Previous namesaminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia), aminolevulinate, delta-, synthase 2

Alias namessideroblastic/hypochromic anemia, erythroid-specific delta-aminolevulinate synthase

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn

Diabetes Mellitus

Alopecia

Enterocolitis, Necrotizing

Autosomal dominant macrothrombocytopenia

Leukemia, Erythroblastic, Acute

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-10-10.

Open TargetsGene–disease associations from the Open Targets Platform.