Syntrophin, alpha 1

Syntrophin, alpha 1 is a protein that in humans is encoded by the SNTA1 gene. This protein is part of the dystrophin complex, which is crucial for muscle function. Mutations in this gene can lead to various genetic disorders, including Duchenne muscular dystrophy and Becker muscular dystrophy.

Structure

Syntrophin, alpha 1 is a 59 kDa protein composed of 505 amino acids. The SNTA1 gene is located on the q arm of chromosome 20 at position 11.2. The protein contains a PDZ domain, a PH domain, and a C-terminal syntrophin unique (SU) domain.

Function

Syntrophin, alpha 1 is an adapter protein that binds to and organizes the subcellular localization of a variety of membrane proteins. It is a component of the dystrophin-associated protein complex (DAPC), which plays a critical role in maintaining the integrity of the sarcolemma, the delicate membrane surrounding each striated muscle fiber.

Clinical significance

Mutations in the SNTA1 gene have been associated with Long QT syndrome, a disorder of the heart's electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmias), which may lead to sudden death.

See also

• Syntrophin
• Dystrophin
• Long QT syndrome

External links

• GeneCards: SNTA1

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