ASPH

Gene

aspartate beta-hydroxylase

HGNCHGNC:757 EnsemblENSG00000198363 NCBI Gene444

Locus: gene with protein productLocation: 8q12.3

Also known as

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

Also known asCASQ2BP1 · BAH · JCTN · HAAH

View full nomenclature history (7)

Alias symbolsCASQ2BP1, BAH, JCTN, HAAH

Alias namesjunctin, humbug, junctate

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.

Malignant hyperthermia of anesthesia

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.

Aspartate beta-hydroxylase domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.