PPFIBP1

PPFIBP1 is a human gene that encodes a protein called Liprin-beta-1. Liprin-beta-1 is a scaffolding protein involved in the formation and function of synapses, the junctions between nerve cells where signals are transmitted. It is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family, specifically the beta subfamily.

Liprin-beta-1 plays a crucial role in organizing presynaptic protein complexes. It interacts with various other proteins, including LAR-RPTPs (leukocyte antigen-related receptor protein tyrosine phosphatases), which are transmembrane proteins that regulate cell adhesion and signaling. These interactions are essential for synapse formation, stabilization, and plasticity.

The protein encoded by PPFIBP1 contains multiple protein-protein interaction domains, allowing it to bind to a variety of synaptic proteins. These domains include PDZ domains, which mediate interactions with proteins containing a C-terminal PDZ-binding motif, and coiled-coil domains, which facilitate oligomerization and interactions with other proteins.

Research suggests that PPFIBP1 is involved in several neurological processes, including neuronal development, axonal guidance, and synaptic transmission. Mutations or dysregulation of PPFIBP1 have been linked to various neurological disorders, including intellectual disability, autism spectrum disorder, and schizophrenia.

Further research is ongoing to fully elucidate the role of PPFIBP1 in the nervous system and its contribution to human health and disease. Understanding the function of Liprin-beta-1 may provide insights into the pathogenesis of neurological disorders and lead to the development of new therapeutic strategies.