TNRC6B encodes a scaffolding protein essential for RNA-mediated gene silencing by both microRNAs (miRNAs) and short interfering RNAs (siRNAs). The protein interacts with argonaute family members bound to target mRNAs and simultaneously recruits the CCR4-NOT and PAN deadenylase complexes, promoting miRNA-dependent translational repression and siRNA-dependent mRNA cleavage. Heterozygous truncating variants in TNRC6B cause a novel autosomal dominant disorder characterized by global developmental delay with speech delay (94%), fine motor delay (82%), and gross motor delay (71%), alongside autism or autistic traits (76%), attention deficit hyperactivity disorder (65%), behavioral problems, and musculoskeletal findings (71%) 1. Additional phenotypic features include short stature, low body weight, facial dysmorphism, and metabolic abnormalities 2. The pathogenic mechanism appears to involve haploinsufficiency rather than dominant-negative effects 1. Beyond developmental contexts, TNRC6B variants associate with risk for uterine leiomyoma in Han Chinese and European American populations, with specific polymorphisms correlating with fibroid volume and number 34. In cancer biology, a circular RNA derived from TNRC6B exons suppresses esophageal squamous cell carcinoma proliferation by sponging oncogenic miRNAs 5. DNA methylation patterns at TNRC6B CpG sites show prospective associations with cancer development 6.