MPP5
MP5: A Comprehensive Guide
Introduction
MP5, also known as muscle protein 5, is a structural protein found in skeletal muscle. It plays a crucial role in maintaining muscle integrity and function. Deficiencies or mutations in MP5 can lead to various muscle disorders.
Description
MP5 is a large, filamentous protein that forms part of the muscle sarcomere, the basic contractile unit of muscle. It interacts with other sarcomeric proteins, including myosin, actin, and titin, to regulate muscle contraction and relaxation. MP5 is also involved in muscle development, regeneration, and maintenance.
Associated Diseases
Mutations or deficiencies in MP5 can cause several muscle disorders, including:
- Myofibrillar myopathy: A genetic condition characterized by progressive muscle weakness and atrophy.
- Myasthenia gravis: An autoimmune disorder that affects the transmission of nerve signals to muscles, leading to muscle weakness and fatigue.
- Rimmed vacuolar myopathy: A rare muscle disorder characterized by the accumulation of abnormal vacuoles within muscle fibers.
- Congenital muscle dystrophy: A group of genetic conditions that cause muscle weakness and degeneration from birth.
Did you Know ?
Approximately 1 in 100,000 people worldwide have myofibrillar myopathy, the most common disease associated with MP5 mutations.
