AP2A2 and Associated Diseases
Creative Biolabs is an innovative biotechnology company focused on gene therapy research. After decades of accumulation, we have accumulated rich experience in the field of gene therapy. Our vision is to help clients around the world achieve exceptional success in gene therapy. We are willing to share background knowledge related to gene therapy, and here we provide a brief introduction to the adaptor-related protein complex 2 subunit alpha 2 (AP2A2) gene and related diseases.
Overview of AP2A2
The protein encoded by AP2A2 is an important subunit of the adaptor protein-2 (AP-2) complex, which consists of four subunits that are essential for its function. AP2A2 interacts with clathrin, cargo, and accessory proteins. Therefore, AP2A2 plays a crucial role in vesicle formation and sorting. As a component of the AP-2 complex, AP2A2 endocytosis may also function independently of cell signaling, since that some essential cellular functions involving cell fate, such as cell cycle, apoptosis, and RNAi regulation, are already transported by endocytosis recorded in the network. AP2A2 is abundantly expressed in many human tissues. More recently, AP2A2 was found to be closely linked to asymmetric cell division and self-renewal of hematopoietic stem and progenitor cells.
Fig.1 The function of AP-2 on the plasma membrane. (Nelson, 2020)
AP2A2 and Associated Diseases
AP2A2 is a key regulator of clathrin-mediated endocytosis. Studies have found that AP2A2 is abnormally expressed in dementia and has been implicated in α-synuclein and neuropathogen internalization into neurons and cells. Furthermore, AP2A2 is essential for synaptic transmission, therefore, may be associated with cognitive deficits in Alzheimer's disease (AD). AD is a common neurodegenerative brain disease that adversely affects brain structure and function. AD causes synaptic dysfunction early in the disease process, disrupting communication within neural circuits important for memory and other cognitive functions. Importantly, in addition to AD, abnormal expression of AP2A2 is particularly associated with obesity, coronary heart disease, chronic bronchitis, and nicotine withdrawal. It is worth noting that some experimental results suggest that AP2A2 mutations cause severe myopathy.
Potential Molecular Mechanisms
As an essential component of key protein complexes in the endocytic machinery, AP2A2 protein plays a crucial role in the endocytosis of proteins involved in AD pathology. Moreover, AP2A2 interacts with synuclein trafficking in neurons and thus may participate in the regulation of related inflammation and the synuclein life cycle in Parkinson's disease. Therefore, AP2A2 is considered to be a strong functional candidate gene for dementia and neurodegeneration.
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Reference
- Nelson, P. T.; et al. The MUC6/AP2A2 locus and its relevance to Alzheimer’s disease: a review. Journal of Neuropathology & Experimental Neurology. 2020, 79(6): 568-584.
