Ccdc93-flox Mouse

Ccdc93, or coiled-coil domain-containing 93, is a crucial component of the CCC (COMMD/CCDC22/CCDC93) complex. This complex is essential for endosomal recycling of diverse transmembrane cargos, a process vital for maintaining cellular homeostasis. It is also involved in the endosomal trafficking pathway, which has implications for various biological functions such as cell signaling and survival [1,4,5,6,7,8].

Genetic and functional studies have been carried out to understand the role of Ccdc93. In a Chinese population, a coding variant in Ccdc93 was associated with increased central systolic blood pressure (cSBP). CRISPR/Cas9-mediated Ccdc93 loss in mice showed that homozygous deletion was lethal during embryonic development. Heterozygous Ccdc93+/- mice had lower aortic Ccdc93 protein expression, elevated SBP, impaired arterial relaxation, and mitochondrial dysfunction, indicating its role in BP regulation through effects on vascular mitochondrial and endothelial function [2]. In another study, a common variant in Ccdc93 was found to protect against myocardial infarction and cardiovascular mortality. Ccdc93 ablation in cells reduced LDL uptake due to decreased LDLR levels at the cell membrane, suggesting its role in regulating endosomal trafficking of the low-density lipoprotein receptor (LDLR) [3].

In conclusion, Ccdc93 plays essential roles in endosomal recycling and trafficking, with implications for blood pressure regulation and cardiovascular health. The gene knockout studies in mice have been instrumental in revealing its role in these biological processes and disease conditions, providing insights into potential therapeutic targets for related diseases.