LIPA
Overview
LIPA (Lysosomal Acid Lipase A) encodes an enzyme responsible for the hydrolysis of cholesteryl esters and triglycerides within lysosomes. In the skin, LIPA expression is elevated in the UV-exposed, differentiated (HighMut) melanocyte subpopulation, where it is associated with protein-breakdown and antigen-presentation programs linked to UV-driven immune surveillance.
Alterations observed in the corpus
- LIPA is a differentially upregulated marker in HighMut (UV-exposed, high-mutational-burden) melanocytes relative to LowMut (stem-like, neural-crest) melanocytes in normal human skin; assigned to the antigen-presentation/protein-breakdown functional cluster. Identified by DESeq2 differential expression (BH-adjusted p<0.10, log2FC>0) across 297 single melanocytes from 31 donors. PMID:39975212
Cancer types (linked)
- No direct cancer-type driver role reported. LIPA expression is studied in non-lesional skin from melanoma patients as part of melanocyte state characterization relevant to melanoma origins. PMID:39975212
Co-occurrence and mutual exclusivity
Therapeutic relevance
- No therapeutic relevance reported in the corpus.
Open questions
- Whether LIPA-high HighMut melanocytes contribute to immune recognition of UV-damaged cells (via antigen presentation) or instead represent a lysosomal stress response to oxidative damage is unresolved. PMID:39975212
Sources
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