人 TBC1D23 抗体对
01AB02580
TBC1 domain family member 23 (TBC1D23) is a cytosolic adaptor protein that localizes to the trans-Golgi network to mediate endosome-to-Golgi trafficking and vesicle tethering. It acts as a modular bridging factor, simultaneously engaging golgins such as GOLGA1 and GOLGA4 at the Golgi and the WASH-complex subunit FAM21 on endosomal carriers. This interaction enables the specific capture of endosomal vesicles for retrograde transport. TBC1D23 is essential for proper brain development and neuronal growth. Clinically, pathogenic variants in TBC1D23 are linked to pontocerebellar hypoplasia and intellectual disability, likely due to defects in receptor sorting and the formation of neuronal circuits.
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技术参数
- 靶点基因名
- TBC1D23
- 基因别名
- NS4ATP1
- 蛋白别名
- TBC1 domain family member 23; TBC1D23
- UniProt
- Q9NUY8
- 物种
- Human
产品详情
- 靶点名称
- TBC1D23
- 蛋白名称
- TBC1 domain family member 23
- 蛋白别名
- TBC1 domain family member 23; HCV non-structural protein 4A-transactivated protein 1
- 靶点基因名
- TBC1D23
- 基因别名
- NS4ATP1
- UniProt
- Q9NUY8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
TBC1 domain family member 23 (TBC1D23) is a cytosolic adaptor protein that localizes to the trans-Golgi network to mediate endosome-to-Golgi trafficking and vesicle tethering. It acts as a modular bridging factor, simultaneously engaging golgins such as GOLGA1 and GOLGA4 at the Golgi and the WASH-complex subunit FAM21 on endosomal carriers. This interaction enables the specific capture of endosomal vesicles for retrograde transport. TBC1D23 is essential for proper brain development and neuronal growth. Clinically, pathogenic variants in TBC1D23 are linked to pontocerebellar hypoplasia and intellectual disability, likely due to defects in receptor sorting and the formation of neuronal circuits.