Gene loci
- Results from t(9;17)(q31;q24) translocation: SLC44A1 at 9q31, PRKCA at 17q24.
Normal function
- SLC44A1 (CTL1): Choline/H+ antiporter, transports choline across plasma and mitochondrial membranes for acetylcholine synthesis and membrane production.
- PRKCA: Encodes PKC alpha, a calcium/phospholipid-dependent serine/threonine kinase regulating cell proliferation, survival, motility.
Fusion effects
- SLC44A1-PRKCA fusion retains SLC44A1 promoter and N-terminal with PRKCA kinase domain, causing constitutive kinase activation.
- Leads to deregulated PRKCA signaling (loss of regulatory N-terminus), high expression promotes proliferation, inhibits differentiation.
- Choline transport domain dispensable in some variants.
Clinical association
- Defining feature of Papillary glioneuronal tumour
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