PTPRT Gene
PTPRT (Protein Tyrosine Phosphatase Receptor Type T), also known as RPTPρ, is a member of the receptor protein tyrosine phosphatase family. It is primarily expressed in the nervous system where it plays critical roles in regulating synaptic connectivity, neuronal migration, and axon guidance. PTPRT functions by dephosphorylating specific substrates involved in neuronal development and synaptic plasticity. Mutations in PTPRT have been associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disability, while altered expression has been observed in various cancers. Research continues to elucidate its potential roles in neurodegenerative processes.
PTPRT (RPTPρ) is a receptor-type protein tyrosine phosphatase that regulates synaptic connectivity and neuronal migration. It plays important roles in axon guidance, dendrite morphology, and synapse formation through dephosphorylation of various substrates.
PTPRT mutations have been implicated in autism spectrum disorder and intellectual disability. PTPRT is a tumor suppressor frequently mutated in cancers. Its role in neurodegeneration is emerging.
PTPRT is expressed primarily in the brain, with high expression in the cerebral cortex, hippocampus, and cerebellum. It localizes to synaptic junctions.