抗人 GARNL3 抗体对
01AB01962
GTPase activating Rap/RanGAP domain like 3 (GARNL3) is a large cytoplasmic protein that functions as a predicted GTPase-activating protein (GAP) involved in small GTPase-mediated signal transduction. It specifically modulates the dynamics of Rap and Ran-family GTPases through its Rap/Ran-GAP-related domains and a citron homology region, which are essential for regulating neuronal and cytoskeletal signaling. Highly expressed in the brain, GARNL3 is critical for neural function and synaptic integrity. Clinically, variants in the GARNL3 gene are associated with neurodevelopmental and neurodegenerative disorders, including Developmental and Epileptic Encephalopathy 4 and Spinocerebellar Ataxia 1, likely resulting from disturbed small GTPase signaling and cerebellar dysfunction.
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技术参数
- 靶点基因名
- GARNL3
- 蛋白别名
- GTPase activating Rap/RanGAP domain like 3; GARNL3
- UniProt
- Q5VVW2
- 物种
- Human
产品详情
- 靶点名称
- GARNL3
- 蛋白名称
- GTPase activating Rap/RanGAP domain like 3
- 蛋白别名
- GTPase-activating Rap/Ran-GAP domain-like protein 3
- 靶点基因名
- GARNL3
- UniProt
- Q5VVW2
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
GTPase activating Rap/RanGAP domain like 3 (GARNL3) is a large cytoplasmic protein that functions as a predicted GTPase-activating protein (GAP) involved in small GTPase-mediated signal transduction. It specifically modulates the dynamics of Rap and Ran-family GTPases through its Rap/Ran-GAP-related domains and a citron homology region, which are essential for regulating neuronal and cytoskeletal signaling. Highly expressed in the brain, GARNL3 is critical for neural function and synaptic integrity. Clinically, variants in the GARNL3 gene are associated with neurodevelopmental and neurodegenerative disorders, including Developmental and Epileptic Encephalopathy 4 and Spinocerebellar Ataxia 1, likely resulting from disturbed small GTPase signaling and cerebellar dysfunction.