PMEL
Overview
PMEL (premelanosome protein, also known as gp100 or SILV) encodes a transmembrane glycoprotein essential for melanosome biogenesis and melanin polymerization. It is a canonical lineage marker of melanocytic differentiation, expressed in both normal melanocytes and melanoma cells, and has been exploited as a tumor-associated antigen target in immunotherapy.
Alterations observed in the corpus
- Lineage confirmation marker: PMEL transcript serves as a positive-identity marker for melanocytes alongside TYRP1, MLANA, and MITF in a normal human skin single-cell atlas — no somatic driver alterations are reported in this normal-tissue study. PMID:39975212
Cancer types (linked)
- MEL (Melanoma) / SKIN: PMEL is a melanocyte-lineage marker used to confirm melanocyte identity in scRNA-seq/spatial profiling of non-lesional skin adjacent to a melanoma patient. No driver-mutation role is reported in the corpus. PMID:39975212
Co-occurrence and mutual exclusivity
- Co-expressed with TYRP1, MLANA, and MITF as part of the melanocytic lineage gene set in normal skin atlas data. PMID:39975212
Therapeutic relevance
- PMEL-derived peptides (e.g., gp100) have historically been used as melanoma vaccine antigens and as targets for adoptive T-cell therapy. No direct therapeutic finding reported in the current corpus.
Open questions
- Role of PMEL expression level in distinguishing HighMut versus LowMut melanocyte subpopulations (as defined by somatic mutation burden) is not established by the corpus — PMEL is used only as a lineage marker and not as a subpopulation discriminator. PMID:39975212
Sources
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