COL5A1

The COL5A1 gene encodes the pro-alpha1(V) chain of type V collagen, a minor fibrillar collagen with several common aliases such as collagen type V alpha 1 chain. This protein is crucial for the proper assembly and stability of collagen fibrils. It interacts with other collagens and extracellular matrix components to regulate fibril diameter and organization. Signaling pathways associated with COL5A1 include the TGF - β pathway, which influences its expression.
Mutations in COL5A1 are linked to Ehlers - Danlos syndrome, a group of connective tissue disorders characterized by joint hypermobility and skin fragility. In drug development, research is focused on modulating the TGF - β signaling pathway to correct abnormal collagen synthesis and deposition related to COL5A1 dysregulation.