人 ATP6AP2 抗体对
01AB01634
ATPase H+ transporting accessory protein 2 (ATP6AP2) is a type I transmembrane subunit of the vacuolar H+-ATPase (V-ATPase) that localizes to endosomes and lysosomes. It is essential for the assembly of the V-ATPase complex, which mediates the acidification of the endo-lysosomal system required for protein degradation and proper glycosylation. Additionally, its extracellular N-terminal domain functions as a receptor for renin and prorenin, facilitating the conversion of angiotensinogen to angiotensin I and activating ERK1/2 signaling. Pathogenic variants in ATP6AP2 are linked to X-linked parkinsonism with spasticity and X-linked congenital disorder of glycosylation type Iir. These conditions are characterized by neurodevelopmental delay, seizures, and movement disorders, resulting from impaired V-ATPase function and disrupted cellular homeostasis.
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技术参数
- 靶点基因名
- ATP6AP2
- 基因别名
- ATP6IP2; CAPER; ELDF10
- 蛋白别名
- ATPase H+ transporting accessory protein 2; ATP6AP2
- UniProt
- O75787
- 物种
- Human
产品详情
- 靶点名称
- ATP6AP2
- 蛋白名称
- ATPase H+ transporting accessory protein 2
- 蛋白别名
- Renin receptor; ATPase H(+)-transporting lysosomal accessory protein 2; ATPase H(+)-transporting lysosomal-interacting protein 2; ER-localized type I transmembrane adapter; Embryonic liver differentiation factor 10; N14F; Renin/prorenin receptor; Vacuolar ATP synthase membrane sector-associated protein M8-9; ATP6M8-9; V-ATPase M8.9 subunit) [Cleaved into: Renin receptor N-terminal fragment; Renin receptor C-terminal fragment]
- 靶点基因名
- ATP6AP2
- 基因别名
- ATP6IP2; CAPER; ELDF10
- UniProt
- O75787
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
ATPase H+ transporting accessory protein 2 (ATP6AP2) is a type I transmembrane subunit of the vacuolar H+-ATPase (V-ATPase) that localizes to endosomes and lysosomes. It is essential for the assembly of the V-ATPase complex, which mediates the acidification of the endo-lysosomal system required for protein degradation and proper glycosylation. Additionally, its extracellular N-terminal domain functions as a receptor for renin and prorenin, facilitating the conversion of angiotensinogen to angiotensin I and activating ERK1/2 signaling. Pathogenic variants in ATP6AP2 are linked to X-linked parkinsonism with spasticity and X-linked congenital disorder of glycosylation type Iir. These conditions are characterized by neurodevelopmental delay, seizures, and movement disorders, resulting from impaired V-ATPase function and disrupted cellular homeostasis.