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USP30

Gene

ubiquitin specific peptidase 30

HGNCHGNC:20065EnsemblENSG00000135093NCBI Gene84749
Locus: gene with protein productLocation: 12q24.11

Also known as

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

Also known asMGC10702 · FLJ40511
View full nomenclature history (3)
Alias symbolsMGC10702, FLJ40511
Previous namesubiquitin specific protease 30

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
Central Nervous System Infections
Schizophrenia
Hearing loss, autosomal recessive
Deafness
Neoplasms
Leukemia, Myeloid, 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.

Gene family

HGNC gene-group membership.

Ubiquitin specific peptidases

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-11-26.
Open TargetsGene–disease associations from the Open Targets Platform.