PTBP2

PTBP2 or Polypyrimidine Tract Binding Protein 2 is a protein that in humans is encoded by the PTBP2 gene. This protein is a member of the RNA-binding protein family and plays a crucial role in alternative splicing regulation.

Function

PTBP2 is a nuclear protein that binds to the polypyrimidine tract of pre-mRNA introns. It is involved in the regulation of alternative splicing by inhibiting the binding of U2 small nuclear ribonucleoprotein (U2 snRNP) to the branch point sequence (BPS) of pre-mRNA introns, thereby repressing the formation of lariat-shaped RNA intermediates during splicing.

Clinical Significance

Mutations in the PTBP2 gene have been associated with intellectual disability and autism spectrum disorder. Studies have shown that PTBP2 is essential for the survival and function of neurons, and its dysregulation can lead to neuronal dysfunction and disease.

See Also

• RNA-binding protein
• Alternative splicing
• Intellectual disability
• Autism spectrum disorder

References

‎