SNTB2
SNTB2 or Syntrophin Beta 2 is a protein that in humans is encoded by the SNTB2 gene. It is a member of the Syntrophin family of proteins, which are believed to play a crucial role in the interaction between proteins within the body.
Function[edit | edit source]
The SNTB2 protein is a peripheral membrane protein that is a component of the Dystrophin-associated protein complex. This complex is found at the cellular membrane and is involved in linking the cytoskeleton to the extracellular matrix.
Clinical significance[edit | edit source]
Mutations in the SNTB2 gene have been associated with a variety of medical conditions. For example, a study published in the American Journal of Human Genetics found that mutations in this gene were associated with Intellectual disability.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
