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PMP22

Gene

peripheral myelin protein 22

HGNCHGNC:9118EnsemblENSG00000109099NCBI Gene5376
Locus: gene with protein productLocation: 17p12

Also known as

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

Also known asCMT1A · HNPP · GAS3 · Sp110 · HMSNIA
View full nomenclature history (6)
Previous symbolsCMT1A
Alias symbolsHNPP, GAS3, Sp110, HMSNIA
Previous namesCharcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)

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.

Guillain-Barre Syndrome
Charcot-Marie-Tooth Disease
Genetic Diseases, Inborn

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.

MicroRNA 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.