SNTG1

SNTG1 or Syntrophin Gamma 1 is a protein that in humans is encoded by the SNTG1 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

The SNTG1 protein is a peripheral membrane protein that is a component of the dystrophin-glycoprotein complex, which may have a role in linking the Actin cytoskeleton to the plasma membrane. This complex is thought to be involved in the maintenance of the integrity of the plasma membrane.

Clinical significance

Mutations in the SNTG1 gene have been associated with Neurodevelopmental disorders, including Intellectual disability and Autism spectrum disorder. Further research is needed to fully understand the role of SNTG1 in these conditions.

Structure

The SNTG1 protein is composed of several domains, including a PDZ domain, a PH domain, and a C-terminal domain. These domains allow the protein to interact with other proteins and lipids in the cell.

See also

• Syntrophin
• Dystrophin complex
• Actin
• Neurodevelopmental disorder
• Intellectual disability
• Autism spectrum disorder

External links

• NCBI Gene
• UniProt