人 BIG-2 抗体对
01AB01657
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.
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技术参数
- 靶点基因名
- CNTN4
- 蛋白别名
- contactin 4; BIG-2
- UniProt
- Q8IWV2
- 物种
- Human
产品详情
- 靶点名称
- BIG-2
- 蛋白名称
- contactin 4
- 蛋白别名
- Contactin-4; Brain-derived immunoglobulin superfamily protein 2; BIG-2
- 靶点基因名
- CNTN4
- UniProt
- Q8IWV2
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.