PPFIA3 encodes Protein-tyrosine phosphatase, receptor type, F polypeptide interacting protein Alpha 3 (PPFIA3), also referred to as liprin alpha 3 (liprin-a3). Liprin-a3 is a scaffolding protein that is essential to the assembly of synaptic active sites. Synapses are highly regulated intercellular junctions that facilitate the synaptic vesicle cycle and release of neurotransmitters. Disruption to synaptic function can cause adverse neurological effects and has been identified as a contributory factor in many neurodevelopmental and neuropsychiatric disorders. Precise neurotransmitter release is dependent on synapse morphology, thus, deleterious variants in the PPFIA3 gene can contribute to irregularities in neurological function such as seizures, dysarthria, autism, cognitive impairments, and global delayed developmental.
PPFIA3