人 PPP1R21 抗体对
01AB01809
Protein phosphatase 1 regulatory subunit 21 (PPP1R21) is a ubiquitously expressed cytosolic and endosomal protein that serves as a putative regulator of serine/threonine protein phosphatase 1. It acts as a structural hub within the five-subunit FERRY complex, an early endosomal Rab5 effector that links specific mRNAs and ribosomes to Rab5-positive early endosomes to facilitate endosomal mRNA transport and localization. By binding all FERRY subunits, mRNA, and RAB5A, PPP1R21 coordinates endosomal sorting, maturation, and RNA binding. Biallelic loss-of-function variants in PPP1R21 cause an autosomal recessive neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA). This condition is characterized by global developmental delay, severe intellectual disability, and impaired endocytic trafficking, supporting the role of PPP1R21 in maintaining cellular proteostasis and vesicular transport.
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技术参数
- 靶点基因名
- PPP1R21
- 基因别名
- CCDC128; FERRY2; KLRAQ1
- 蛋白别名
- protein phosphatase 1 regulatory subunit 21; PPP1R21
- UniProt
- Q6ZMI0
- 物种
- Human
产品详情
- 靶点名称
- PPP1R21
- 蛋白名称
- protein phosphatase 1 regulatory subunit 21
- 蛋白别名
- Protein phosphatase 1 regulatory subunit 21; Coiled-coil domain-containing protein 128; Ferry endosomal RAB5 effector complex subunit 2; Fy-2; KLRAQ motif-containing protein 1
- 靶点基因名
- PPP1R21
- 基因别名
- CCDC128; FERRY2; KLRAQ1
- UniProt
- Q6ZMI0
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Protein phosphatase 1 regulatory subunit 21 (PPP1R21) is a ubiquitously expressed cytosolic and endosomal protein that serves as a putative regulator of serine/threonine protein phosphatase 1. It acts as a structural hub within the five-subunit FERRY complex, an early endosomal Rab5 effector that links specific mRNAs and ribosomes to Rab5-positive early endosomes to facilitate endosomal mRNA transport and localization. By binding all FERRY subunits, mRNA, and RAB5A, PPP1R21 coordinates endosomal sorting, maturation, and RNA binding. Biallelic loss-of-function variants in PPP1R21 cause an autosomal recessive neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA). This condition is characterized by global developmental delay, severe intellectual disability, and impaired endocytic trafficking, supporting the role of PPP1R21 in maintaining cellular proteostasis and vesicular transport.