Research & Scientific Literature

Stay informed about the latest research developments and scientific discoveries related to TANC2.

Scientists worldwide are studying TANC2 to better understand how changes in this gene affect brain development and function. This research is crucial for developing targeted therapies.

Dr. Iffland has currently launched the largest patient study of TANC2 in the world. The purpose of this study is to determine how TANC2 mutations that cause epilepsy, autism, and intellectual disability, among other medical conditions, impact the ability of cells to function properly.

Understanding how mutations impact cells

Join the international research registry to help advance our understanding of TANC2

The TANC2 protein functions as a scaffold in the postsynaptic density (PSD) of excitatory neurons, organizing multi-protein complexes at glutamatergic synapses. It's essential for dendrite formation, synaptic plasticity, and proper brain cell communication. While primarily expressed in the brain, TANC2 is also found in other tissues including heart, kidney, and liver, where its specific functions are still being studied. According to the Alliance of Genome Resources, TANC2 is predicted to enable several molecular functions including protein binding and may be involved in regulating synaptic transmission and neuronal development. Clinical studies have established strong linkages between TANC2 variants and neurodevelopmental disorders, making it a critical gene for understanding brain function and development.