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Family with sequence similarity 91 member A1 (FAM91A1) is a protein that forms part of the FAM91A1 complex, together with WDR11 and C17orf75. The FAM91A1 complex plays a key role in endosome-to-Golgi trafficking, directly interacting with TBC1D23 to mediate the movement of cargo proteins such as KIAA0319L, which is associated with axonal growth. Depletion or mutation of FAM91A1 causes abnormal neuronal development and axonal morphology in model organisms, phenocopying the effects of TBC1D23 loss; this has direct implications for human disorders such as pontocerebellar hypoplasia (PCH). Current evidence suggests the FAM91A1 complex is crucial for protein sorting, intracellular localization, and signaling, and that its dysfunction could contribute to a spectrum of neurological and possibly cancer pathologies. There are no known drugs, mechanisms of action, or clinically validated biomarkers targeting FAM91A1, and it is not considered a therapeutic target at this time.
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