PMEL Gene (Premelanosome Protein)
Key regulator of melanosome biogenesis and pigmentation
Gene Information Card
| Symbol | PMEL |
|---|---|
| Full Name | Premelanosome Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 6490 ncbi.nlm.nih.gov/gene/6490 |
| Ensembl ID | ENSG00000185664 |
| UniProt ID | P40967 |
| OMIM ID | 155550 |
| HGNC ID | 9080 |
| Aliases | SILV, ME20, gp100, Pmel17 |
Description
The PMEL gene encodes a melanocyte-specific glycoprotein that is essential for the formation of melanosomes, the organelles responsible for melanin synthesis and storage. PMEL protein forms fibrillar structures within melanosomes that serve as a scaffold for melanin deposition. Mutations in PMEL are associated with pigmentation disorders and melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Overexpression and aberrant processing of PMEL contribute to tumor progression and immune evasion. | PMID: 12354733, COSMIC |
| Vitiligo | Autoimmune targeting of PMEL leads to melanocyte destruction and depigmentation. | PMID: 15689456 |
| Hermansky-Pudlak syndrome (HPS) | PMEL trafficking defects due to HPS gene mutations impair melanosome formation. | PMID: 17041601 |
| Oculocutaneous albinism | PMEL dysfunction disrupts melanin production, causing hypopigmentation. | PMID: 11281456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 78.5 | High |
| Eye | 45.2 | Medium |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 | 120.3 | Melanoma cell line |
| A375 | 98.7 | Melanoma cell line |
| HEK293 | 0.5 | Non-melanocytic control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1481G>A (p.Gly494Asp) | Missense | <1% | Reduced melanosome fibril formation |
| c.2128C>T (p.Arg710Trp) | Missense | <1% | Altered PMEL trafficking |
| c.1-?_*_?del | Deletion | Rare | Loss of function, hypopigmentation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair melanosome scaffold formation, leading to hypopigmentation.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in melanoma may promote tumorigenesis.
Dominant Negative (DN)
Dominant-negative effects have been proposed for certain missense variants that disrupt PMEL oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • melanosome (GO:0030318) | • melanosome membrane (GO:0042470) |
| • transporter activity (GO:0005215) | • melanosome organization (GO:0032402) |
| • pigmentation (GO:0043473) |
Pathways
• Melanogenesis (KEGG: hsa04916)
• Melanosome biogenesis (Reactome: R-HSA-5663205)
Protein Summary
PMEL is a type I transmembrane glycoprotein that undergoes proteolytic processing to form intraluminal fibrils within melanosomes. These fibrils provide a matrix for melanin polymerization. PMEL is also a target of immune responses in melanoma and vitiligo.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMEL Knockout HEK293 Cell Line | EDJ-KQ5000 | Human | 6490 | Details Get a Quote |
| PMEL Knockout A-549 Cell Line | EDJ-KQ29159 | Human | 6490 | Details Get a Quote |
| PMEL Knockout HCT 116 Cell Line | EDJ-KQ29161 | Human | 6490 | Details Get a Quote |
| PMEL Knockout HeLa Cell Line | EDJ-KQ29162 | Human | 6490 | Details Get a Quote |
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