Anti-OBSCN antibody

Supplementary info

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

Activity summary

The OBSCN gene encodes the protein obscurin also known by its alternate names including UNC-89. Obscurin is a large protein with a molecular mass exceeding 800 kDa. It is primarily located in striated muscle where it plays a role in linking the sarcomere to the sarcoplasmic reticulum. Obscurin contains multiple domains that facilitate protein-protein interactions allowing it to interact with various components within muscle cells.

Biological function summary

Obscurin assists in maintaining the structural integrity and organization of myofibrils. It forms part of a complex in muscle cells involving proteins such as titin and myomesin. This complex aids in the mechanical stability of the contractile apparatus ensuring muscle contraction occurs effectively. Obscurin’s interactions within this complex contribute to the proper transmission of force across the muscle fiber.

Pathways

The functions of obscurin link it to the sarcomeric signaling pathway and calcium handling pathways in muscle physiology. These pathways involve coordination with titin and ankyrins which help regulate muscle contraction and relaxation. Through these pathways obscurin influences muscle cell responsiveness to mechanical stress and contributes to muscle homeostasis.

Associated diseases and disorders

Altered obscurin function associates with muscle-related conditions particularly hereditary myopathies and dilated cardiomyopathy. Researchers have linked obscurin to titin due to their shared roles in maintaining sarcomeric structure. Mutations or dysregulations in either protein can lead to insufficient muscle function and structural cardiac issues implicating obscurin as a significant factor in these diseases.