SGCE

SGCE or Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene. It is a member of the sarcoglycan family of proteins, which are components of the dystrophin-associated protein complex (DAPC). Mutations in this gene have been associated with myoclonus-dystonia syndrome.

Function

The SGCE gene provides instructions for making a protein called epsilon-sarcoglycan. This protein is part of a group of proteins called the sarcoglycans, which are located in the cell membrane of muscle cells. The sarcoglycans interact with each other and with other proteins to form the dystrophin-associated protein complex. This complex strengthens muscle fibers and prevents them from being damaged during muscle contraction.

Clinical significance

Mutations in the SGCE gene are the most common cause of myoclonus-dystonia syndrome, a condition characterized by rapid, uncontrolled muscle jerks (myoclonus) and, in some cases, sustained muscle contractions that result in twisting and repetitive movements or abnormal postures (dystonia). The SGCE gene mutations that cause myoclonus-dystonia syndrome reduce the amount of functional epsilon-sarcoglycan protein in cells. It is unclear how these changes lead to the specific features of myoclonus-dystonia syndrome.

See also

• Sarcoglycan
• Dystrophin-associated protein complex
• Myoclonus-dystonia syndrome

External links

• SGCE at NCBI
• SGCE at Genetics Home Reference