Anti-Dymeclin antibody [EPR8789]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Dymeclin also known as Dym is a protein involved in cellular processes with a molecular weight of approximately 55kDa. This protein shows expression in various tissues but is especially present in the bone brain and cartilage. As a component of the endosomal system Dymeclin is important for maintaining proper cellular function. It assists in the stability and trafficking of lysosomes by interacting with intracellular compartments.

Biological function summary

Dymeclin participates in the regulation of skeletal development and neuronal functions. It acts within a larger protein complex that plays roles in maintaining cellular homeostasis particularly involving endosomal trafficking. Dymeclin interacts with other proteins to ensure the integrity of organelles and to modulate transport within the cell. This functionality is essential for proper growth and development affecting both bone density and brain function.

Pathways

Dymeclin finds involvement in the endocytic and lysosomal pathways. It connects to proteins like Rab7 which is significant for endosomal-lysosomal transport. Through these pathways Dymeclin influences the prevention of premature degradation of cellular components and assists in signal transduction processes. Its interactions within these pathways suggest a role in cellular stress response and adaptation by mediating protein sorting and degradation.

Associated diseases and disorders

Mutations or dysfunctions related to Dymeclin lead to bone dysplasia and cognitive impairments. It is strongly associated with Smith-McCort dysplasia and Dyggve-Melchior-Clausen syndrome which involve skeletal abnormalities and intellectual disability. Dymeclin's connection to proteins involved in bone and brain development highlights its influence on the pathogenesis of these disorders emphasizing its role in both structural integrity and cognitive function.