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Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3 (PPFIA3)

Target: PPFIA3
Molecular classification: Synaptic scaffold protein, Liprin family protein, Protein tyrosine phosphatase-interacting protein, Other (as it is not a receptor, enzyme, ion channel, or transporter)

Overview

Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3 (PPFIA3), also known as liprin-alpha-3, is a member of the liprin family of synaptic scaffold proteins[1][2][3][4][5][6]. It interacts with members of the LAR family of receptor-like protein tyrosine phosphatases, influencing their localization at cell membranes and focal adhesions[1][2][4]. PPFIA3 is critical for molecular organization at the presynaptic active zones of neurons, playing a key role in synapse formation, axon guidance, and focal adhesion[3][5][6]. Mutations in PPFIA3 are associated with newly recognized neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder, epilepsy, and craniofacial anomalies[5][6]. Despite its biological importance, PPFIA3 is not a direct target of any known drug classes, and its primary disease associations arise from genetic variations rather than therapeutic modulation.

Other names: Liprin-alpha-3KIAA0654LPNA3MGC126567MGC126569PTPRF-interacting protein alpha-3Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3NEDPACH

Mechanism of action

Not applicable, as no drugs are known to directly target PPFIA3.

Biological functions

Molecular organization of presynaptic active zonesAxon guidanceRegulation of focal adhesion disassemblyLocalization of receptor-like tyrosine phosphatases on the membraneSynapse formation and neuronal signaling

Disease associations

Neurodevelopmental disorders (developmental delay, intellectual disability, hypotonia, epilepsy, microcephaly, macrocephaly)Autism spectrum disorder (ASD)Syndromic X-linked intellectual disability, Najm typePaul-Chao Neurodevelopmental SyndromeSchizophrenia (15)Other congenital syndromes (e.g., Potocki-Lupski syndrome, Rieger anomaly, Phelan-McDermid syndrome)

Safety considerations

No specific safety concerns reported for targeting PPFIA3, as no drugs target this protein.Pathogenic variants are associated with significant developmental and neuropsychiatric symptoms, so gene-editing or gene-targeting approaches would require careful safety evaluation.

Interacting drugs

None reported in current literature or clinical resources

Biomarkers

No validated biomarkers for patient selection or efficacy monitoring are presently established for PPFIA3. However, pathogenic variants are used in genetic diagnostics for associated neurodevelopmental syndromes.

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