| 背景信息 |
Contactin 4 (BIG-2) is a neuronal cell adhesion molecule of the immunoglobulin superfamily anchored to the plasma membrane via a GPI moiety. It contains six Ig-like and four fibronectin type III domains, which mediate homophilic and heterophilic cell-cell interactions. Contactin 4 is highly expressed in the developing brain, where it promotes neurite outgrowth and participates in axon guidance, fasciculation, and synaptogenesis. It is particularly critical for the precise convergence of olfactory sensory neuron axons onto their target glomeruli. Clinically, Contactin 4 is a dosage-sensitive locus implicated in neurodevelopmental disorders. Heterozygous deletions or disruptive variants in the CNTN4 gene are associated with autism spectrum disorder, intellectual disability, and 3p deletion syndrome. These conditions are often characterized by developmental delay and dysmorphic features, highlighting the protein's essential role in neural circuit formation. |