DDRGK1 Activators

DDR1 Kinase Interacting Protein (DDRGK1) is a protein encoded by the DDRGK1 gene in humans. As the name implies, it interacts with the receptor tyrosine kinase DDR1, which is activated by various types of collagens.DDRGK1 is a part of the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway. The ERAD pathway plays a crucial role in maintaining protein homeostasis within the cell by identifying and degrading misfolded proteins in the ER.In addition to the ERAD pathway, DDRGK1 plays a significant role in cellular stress response. When cells undergo stress, DDRGK1 can stabilize the transcription factor ATF6, which then translocates to the nucleus and promotes the expression of various genes related to the unfolded protein response (UPR). The UPR is a cellular response to ER stress, aimed at restoring normal cell function by halting protein translation and activating the signaling pathways that lead to increased production of molecular chaperones involved in protein folding.

Notably, mutations in the DDRGK1 gene have been associated with a rare form of autosomal recessive limb-girdle muscular dystrophy (type 2S), a disorder characterized by progressive muscle weakness and atrophy. It is thought that a lack of functional DDRGK1 protein in this condition may lead to an inadequate response to protein misfolding, leading to muscle cell damage and death.