人 KIAA0513 抗体对
01AB02841
KIAA0513 encodes a cytoplasmic protein predominantly expressed in the brain, with enrichment in the cerebellum, hippocampus, and cortex. Although it lacks defined catalytic domains, it functions as a signaling scaffold, interacting with proteins such as KIBRA and HAX-1 to regulate neuroplasticity, apoptosis, and cytoskeletal organization. KIAA0513 is implicated in synaptic homeostasis and cognitive pathways. Clinically, altered expression or genetic variants are associated with neurodevelopmental and neuropsychiatric conditions, including autism spectrum disorder and schizophrenia. Furthermore, it has been identified as a hub gene in Alzheimer’s disease networks, correlating with beta-amyloid pathology and synaptic dysfunction.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- KIAA0513
- 蛋白别名
- KIAA0513
- UniProt
- O60268
- 物种
- Human
产品详情
- 靶点名称
- KIAA0513
- 蛋白名称
- KIAA0513
- 蛋白别名
- Uncharacterized protein KIAA0513
- 靶点基因名
- KIAA0513
- UniProt
- O60268
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
KIAA0513 encodes a cytoplasmic protein predominantly expressed in the brain, with enrichment in the cerebellum, hippocampus, and cortex. Although it lacks defined catalytic domains, it functions as a signaling scaffold, interacting with proteins such as KIBRA and HAX-1 to regulate neuroplasticity, apoptosis, and cytoskeletal organization. KIAA0513 is implicated in synaptic homeostasis and cognitive pathways. Clinically, altered expression or genetic variants are associated with neurodevelopmental and neuropsychiatric conditions, including autism spectrum disorder and schizophrenia. Furthermore, it has been identified as a hub gene in Alzheimer’s disease networks, correlating with beta-amyloid pathology and synaptic dysfunction.