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AMBRA1

Gene

autophagy and beclin 1 regulator 1

HGNCHGNC:25990EnsemblENSG00000110497NCBI Gene55626
Locus: gene with protein productLocation: 11p11.2

Also known as

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

Also known asFLJ20294 · KIAA1736 · WDR94 · DCAF3
View full nomenclature history (7)
Alias symbolsFLJ20294, KIAA1736, WDR94, DCAF3
Previous namesautophagy/beclin-1 regulator 1
Alias namesWD repeat domain 94, DDB1 and CUL4 associated factor 3

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.

Neurodegenerative Diseases
Cardiomyopathy, Hypertrophic
Thrombophilia
Cardiomyopathies
Helicobacter Infections
Neural Tube Defects

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.

Gene family

HGNC gene-group membership.

WD repeat domain containingDDB1 and CUL4 associated factorsMicroRNA protein coding host genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.