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Target intelligence / Profile preview
ADP-ribosylation factor-like 14 effector protein (ARL14EP)
- Target
- ARL14EP
- Molecular classification
- Other (Effector protein; does not fit classical families like receptor, enzyme, transporter, etc.)
01
Overview
ADP-ribosylation factor-like 14 effector protein (ARL14EP) is a cytoplasmic effector protein that interacts with small GTPase ARL14 (also called ARF7), beta-actin, and myosin 1E. Through these interactions, ARL14EP connects major histocompatibility complex (MHC) class II-containing cytoplasmic vesicles to the actin cytoskeleton within dendritic cells, thereby helping regulate the movement and export of these vesicles. Mutations or disruptions in ARL14EP have been associated with certain neurodevelopmental disorders, such as Seckel syndrome and autism spectrum disorder, but its specific roles in pathology or as a drug target remain undefined[1][2][3].
- Other names
- C11orf46dJ299F11.1ARF7EPARF14EP
02
Biological functions
Cytoskeletal regulation (interacts with actin cytoskeleton via beta-actin and myosin 1E)Vesicle trafficking (links ARL14 and MHC class II vesicles to actin cytoskeleton in dendritic cells)
03
Disease associations
Neurodevelopmental disease (associations with Seckel syndrome and autism spectrum disorder)Other (specific disease mechanisms not well characterized)
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