| 背景信息 |
Kin of IRRE-like protein 3 (KIRREL3) is a member of the immunoglobulin superfamily, functioning primarily as a cell-adhesion molecule that plays a crucial role in synapse formation and neuronal connectivity during brain development. KIRREL3 is characterized by its single-pass transmembrane structure, containing five extracellular immunoglobulin-like domains and an intracellular PDZ-binding motif, which facilitates homophilic interactions between adjacent neurons. Dysregulation or mutations in the KIRREL3 gene have been linked to several neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities, where variants can impair synaptic function and connectivity. Research has shown that KIRREL3 is essential for the formation of specific synapses in the hippocampus, particularly those connecting dentate gyrus neurons with GABAergic neurons. |