Dystrophin is a crucial protein within muscle cells, acting as a key structural component. It is a large, rod-shaped protein residing on the cytoplasmic side of the sarcolemma, the muscle cell membrane. According to references [1,2], dystrophin is a major part of the subsarcolemmal scaffold.
Key Characteristics of Dystrophin
Here's a breakdown of its important aspects:
- Location: Situated on the cytoplasmic side of the sarcolemma, the outer membrane of muscle fibers.
- Structure: It is a large, rod-shaped cytoskeletal protein.
- Function: A major component of the subsarcolemmal scaffold, providing structural stability to muscle cells.
- Genetic Information: The gene encoding dystrophin (DYS1) is located on the X chromosome at the locus Xp21.
- Functional Domains: Dystrophin contains four main functional domains, although their specific roles are not detailed in the provided reference.
Importance of Dystrophin
The presence of dystrophin is essential for maintaining the integrity of muscle cells. Its function in the subsarcolemmal scaffold makes it crucial for proper muscle function.
Table Summarizing Dystrophin
Feature | Description |
---|---|
Type | Cytoskeletal protein |
Shape | Rod-shaped |
Location | Cytoplasmic side of the sarcolemma |
Function | Major component of the subsarcolemmal scaffold; provides structural support to muscle cells |
Genetic Locus | X chromosome (Xp21) |
Gene Name | DYS1 |
Implications of Dystrophin Dysfunction
Dystrophin's importance in muscle structure makes it a critical factor in various muscular conditions when defective or absent. While the references do not go into detail of these conditions, they are related to its absence or deficiency.