C20orf160 Inhibitors

The CCM2-like scaffold protein, also known as CCM2L, is a protein that shares homology with the CCM2 (Cerebral Cavernous Malformations 2) protein, which is known to be involved in the pathology of cerebral cavernous malformations-a condition characterized by the presence of abnormal blood vessels in the brain and spinal cord.As a scaffold protein, CCM2L is presumed to play a role in the assembly of protein complexes, facilitating interactions between various proteins to execute specific biological functions. Scaffold proteins are integral to the organization of signaling cascades and can regulate the specificity and localization of pathway components, thus ensuring accurate signal transduction.

The CCM2L protein is thought to be involved in similar biological pathways as CCM2, particularly in the cardiovascular system where it may influence the development and maintenance of blood vessel integrity. This is supported by the known functions of the CCM2 protein, which, along with KRIT1 (CCM1) and PDCD10 (CCM3), forms a complex that is crucial for cardiovascular development and stability. This complex is involved in stabilizing endothelial cell junctions, managing stress within the endothelial cells, and controlling how cells interact with the surrounding extracellular matrix.Dysfunction or mutations in the genes encoding these proteins, including CCM2 and potentially CCM2L, can lead to the weakening of the blood vessel walls, increasing the risk of hemorrhage. Consequently, research into CCM2L may reveal new insights into the pathogenesis of vascular diseases.