人 KIRREL3 抗体对
01AB04075
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.
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技术参数
- 靶点基因名
- KIRREL3
- 基因别名
- KIAA1867; NEPH2
- 蛋白别名
- kirre like nephrin family adhesion molecule 3; KIRREL3
- UniProt
- Q8IZU9
- 物种
- Human
产品详情
- 靶点名称
- KIRREL3
- 蛋白名称
- kirre like nephrin family adhesion molecule 3
- 蛋白别名
- Kin of IRRE-like protein 3; Kin of irregular chiasm-like protein 3; Nephrin-like protein 2) [Cleaved into: Processed kin of IRRE-like protein 3]
- 靶点基因名
- KIRREL3
- 基因别名
- KIAA1867; NEPH2
- UniProt
- Q8IZU9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.