ELMOD1 encodes a GTPase-activating protein (GAP) with specificity toward ARF family GTPases, including ARL2, ARL3, ARF1, and ARF6 1. The protein localizes to the Golgi apparatus and cilia, where it regulates ciliary protein trafficking and ciliogenesis by inactivating ARL3 and ARL16 2. ELMOD1's GAP activity can be inhibited through direct binding of the sigma-1 receptor, providing a regulatory mechanism for its function 1. Clinically, ELMOD1 mutations have been associated with intellectual disability and autism spectrum disorder in humans, representing the first reported pathogenic human ELMOD1 variants 3. Additionally, ELMOD1 emerges as a biomarker across multiple disease contexts: hypomethylated ELMOD1 was identified as a diagnostic marker for heart failure with preserved ejection fraction, improving diagnostic accuracy when combined with other epigenetic biomarkers 4; genetic variants near ELMOD1 show suggestive association with albuminuria in nondiabetic populations 5; and ELMOD1 hypermethylation was identified among potential plasma cfDNA biomarkers for colorectal cancer detection 6. ELMOD1 also appears in inflammatory pathways relevant to type 1 diabetes, being differentially expressed in models of cytokine-induced β-cell dysfunction 7.