Exophilin-5 (EXPH5)

Exophilin-5 (EXPH5) is a large Rab effector protein involved in intracellular vesicle trafficking, particularly in lysosome-mediated exocytosis and epidermal differentiation. Germline mutations in EXPH5 underlie a subtype of autosomal recessive epidermolysis bullosa, leading to skin fragility and mild blistering. The protein enables proper trafficking and secretion of vesicle-bound cargos such as lamellar bodies in keratinocytes, which are critical for skin barrier function and cell-cell communication. Loss of function causes defective epidermal differentiation, hypoproliferation, and can result in mottled skin pigmentation, but it does not directly impact membrane anchoring proteins of the basement membrane. At present, EXPH5 is not an established therapeutic target, and there are no known drug interactions or biomarker roles described for this protein.

Other names

KIAA0624SLAC2BSlaC2-bSlp homolog lacking C2 domains bSynaptotagmin-like protein homolog lacking C2 domains bsynaptotagmin-like homologue lacking C2 domains bEBS4exophilin 5AC079869.22gm5B130009M24RIKE030050P12RGDI560308EXOPHILIN 5