TMEM167A is a transmembrane protein involved in endoplasmic reticulum (ER) to Golgi trafficking within the early secretory pathway 1. It functions as part of a protein complex that regulates vesicular transport and endosomal system dynamics 2. The protein is highly expressed in pancreatic β cells and neurons 1, tissues critical for glucose homeostasis and neurological function. Biallelic TMEM167A variants cause Microcephaly, Epilepsy, and Diabetes Syndrome (MEDS), a severe neonatal disorder presenting with diabetes diagnosed before 6 months of age, severe microcephaly, and epilepsy in most patients 1. Mechanistically, TMEM167A variants impair proinsulin trafficking to the Golgi and sensitize β cells to ER stress, leading to β cell dysfunction 1. The protein also regulates unfolded protein response activation in B cells and forms a complex with IER3IP1 3. Beyond monogenic disease, TMEM167A variants show associations with common metabolic traits, including lipid levels in genome-wide interaction analyses 4, and have been identified as potential biomarkers in pulmonary tuberculosis diagnosis 5. Additionally, TMEM167A polymorphisms associate with antipsychotic-induced involuntary movements 6, suggesting broader roles in neurological function. These findings highlight TMEM167A's critical importance in secretory pathway function and cellular stress responses across multiple tissues.
No related genes found for this gene.
No tissue expression data available for this gene.