TMEM17 is a transmembrane protein localized at the ciliary transition zone, serving as a critical structural component of the tectonic-like complex that acts as a diffusion barrier preventing inappropriate protein entry into primary cilia 1. The protein is essential for ciliogenesis and Sonic Hedgehog signaling, with loss-of-function variants causing disruption of TMEM17 stability, mislocalization, and compromised cilium composition 2. Biallelic TMEM17 variants are associated with a spectrum of ciliopathies ranging in severity from viable conditions—including orofaciodigital syndrome type 6 (OFD6) and Joubert syndrome (JS)—to fetal-lethal Meckel-Gruber syndrome (MGS) characterized by encephalocele, polycystic kidney dysplasia, and polydactyly 23. The gene was proposed as a ciliopathy candidate based on functional assays in patient-derived fibroblasts and C. elegans models demonstrating ciliogenesis defects 41. Notably, TMEM17 variants show potential genotype-phenotype correlation, with loss-of-function mutations underlying more severe manifestations 3. Beyond ciliary function, TMEM17 has been identified as a prostate cancer susceptibility locus in genome-wide association studies 5, and recent evidence suggests it promotes glioblastoma progression via PI3K/AKT pathway activation 6.