PMEL

Gene

premelanosome protein

HGNCHGNC:10880 EnsemblENSG00000185664 NCBI Gene6490

Locus: gene with protein productLocation: 12q13.2

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Melanocyte protein PMELP40967

Protein · therapeutic target

Clinically validated target · 1 approved medicine against this target

Explore protein biology & therapeutics

Also known as

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

Also known asSIL · SILV · D12S53E · SI · Pmel17 · gp100 · HMB-45 · ME20 · HMB45

View full nomenclature history (11)

Previous symbolsSIL, SILV

Alias symbolsD12S53E, SI, Pmel17, gp100, HMB-45, ME20, HMB45

Previous namessilver (mouse homolog) like, silver homolog (mouse)

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.

Uncombable hair syndrome

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.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-08-22.

Open TargetsGene–disease associations from the Open Targets Platform.