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PMPCA

Gene

peptidase, mitochondrial processing subunit alpha

HGNCHGNC:18667EnsemblENSG00000165688NCBI Gene23203
Locus: gene with protein productLocation: 9q34.3

Also known as

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

Also known asINPP5E · SCAR2 · CLA1 · KIAA0123 · Alpha-MPP · MAS2
View full nomenclature history (10)
Previous symbolsINPP5E, SCAR2, CLA1
Alias symbolsKIAA0123, Alpha-MPP, MAS2
Previous namesinositol polyphosphate-5-phosphatase, 72 kD, peptidase (mitochondrial processing) alpha, spinocerebellar ataxia, autosomal recessive 2, cerebellar ataxia 1 (autosomal recessive)

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
Optic Atrophy
Cardiomyopathy, Hypertrophic

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.

M16 metallopeptidases

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.