Vacuolar fusion protein CCZ1 homolog (CCZ1)

Vacuolar fusion protein CCZ1 homolog (CCZ1) is a protein coding gene involved in intracellular vesicle trafficking and endolysosomal maturation. It acts as a subunit of the Mon1-CCZ1 complex, which functions as a guanine nucleotide exchange factor (GEF) primarily for Rab7, a small GTPase crucial for the transition from early to late endosomes and for endosome–lysosome fusion. The Mon1-CCZ1 complex, with CCZ1 as a core component, plays essential roles in membrane trafficking, lysosomal biogenesis, and autophagy by promoting GDP-GTP exchange on Rab7, facilitating active Rab7 recruitment and activity on endosomal membranes. Dysfunction in CCZ1 or disruption of the Mon1-CCZ1 complex impairs endosomal transport, lysosome function, and has been associated with rare genetic diseases such as Hermansky-Pudlak syndrome and Charcot-Marie-Tooth disease. There are no known approved drugs targeting CCZ1 directly, and it is not currently considered a direct therapeutic target, but rather a fundamental cell biology regulator with implications in genetic disorders and neurodegeneration

Other names

C7orf28ACCZ1ACGI-43H_DJ1163J12.2H_NH0577018.2vacuolar protein trafficking and biogenesis associatedCCZ1 vacuolar protein trafficking and biogenesis associated homolog