SNTB1

SNTB1 or Syntrophin Beta 1 is a protein that in humans is encoded by the SNTB1 gene. It is a member of the Syntrophin family of proteins, which are believed to play a crucial role in the stability and functionality of the Dystrophin complex.

Function

Syntrophin Beta 1 is a peripheral membrane protein that contributes to the anchoring and stability of the Dystrophin complex in muscle cells. It is known to interact with a variety of integral membrane and intracellular proteins, suggesting that it may play a role in linking various signaling pathways to the cytoskeleton.

Structure

The SNTB1 gene is located on the chromosome 8 (8p21.2) and spans approximately 24.6 kilobases. The encoded protein is 568 amino acids long with a predicted molecular weight of approximately 63 kDa. It contains several functional domains, including a PDZ domain, a pleckstrin homology domain, and a syntrophin unique domain.

Clinical Significance

Mutations in the SNTB1 gene have been associated with a variety of diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy. These diseases are characterized by progressive muscle weakness and degeneration.

Research

Research into the function and pathology of SNTB1 is ongoing. Current studies are focused on understanding the role of this protein in muscle function and disease progression, as well as its potential as a therapeutic target for muscular dystrophies.

See Also

• Syntrophin
• Dystrophin complex
• Duchenne muscular dystrophy
• Becker muscular dystrophy

External Links

• NCBI Gene
• UniProt

This article is a stub related to anatomy. You can help WikiMD by expanding it!