人 PLEKHA3 抗体对
01AB01807
Pleckstrin homology domain containing A3 (PLEKHA3), also known as FAPP1, is a cytoplasmic protein that localizes to the Golgi apparatus and plays a vital role in vesicular cargo transport from the trans-Golgi network to the plasma membrane. It specifically binds to phosphatidylinositol 4-phosphate (PtdIns(4)P) through its pleckstrin homology domain, facilitating the recruitment of transport machinery and the regulation of Golgi lipid levels. PLEKHA3 also modulates the activity of the PtdIns(4)P phosphatase SACM1L, thereby influencing endosome organization and receptor recycling. Clinically, mutations in PLEKHA3 are associated with specific well-defined disorders, including Congenital Myasthenic Syndrome 10, which is characterized by impaired neuromuscular transmission and muscle weakness. It is also linked to Rhizomelic Chondrodysplasia Punctata Type 3, a peroxisomal disorder resulting in severe skeletal dysplasia and intellectual disability, highlighting its importance in systemic development and cellular trafficking.
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技术参数
- 靶点基因名
- PLEKHA3
- 基因别名
- FAPP1
- 蛋白别名
- pleckstrin homology domain containing A3; PLEKHA3
- UniProt
- Q9HB20
- 物种
- Human
产品详情
- 靶点名称
- PLEKHA3
- 蛋白名称
- pleckstrin homology domain containing A3
- 蛋白别名
- Pleckstrin homology domain-containing family A member 3; PH domain-containing family A member 3; Phosphatidylinositol-four-phosphate adapter protein 1; FAPP-1; Phosphoinositol 4-phosphate adapter protein 1
- 靶点基因名
- PLEKHA3
- 基因别名
- FAPP1
- UniProt
- Q9HB20
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Pleckstrin homology domain containing A3 (PLEKHA3), also known as FAPP1, is a cytoplasmic protein that localizes to the Golgi apparatus and plays a vital role in vesicular cargo transport from the trans-Golgi network to the plasma membrane. It specifically binds to phosphatidylinositol 4-phosphate (PtdIns(4)P) through its pleckstrin homology domain, facilitating the recruitment of transport machinery and the regulation of Golgi lipid levels. PLEKHA3 also modulates the activity of the PtdIns(4)P phosphatase SACM1L, thereby influencing endosome organization and receptor recycling. Clinically, mutations in PLEKHA3 are associated with specific well-defined disorders, including Congenital Myasthenic Syndrome 10, which is characterized by impaired neuromuscular transmission and muscle weakness. It is also linked to Rhizomelic Chondrodysplasia Punctata Type 3, a peroxisomal disorder resulting in severe skeletal dysplasia and intellectual disability, highlighting its importance in systemic development and cellular trafficking.