PDZD3
PDZD3 Gene: Unraveling its Role in Health and Disease
Description
The PDZD3 gene (also known as PDZ domain-containing protein 3) provides instructions for making a protein called PDZD3. This protein is found in the postsynaptic density (PSD) of neurons, where it plays a crucial role in regulating synaptic function and neuronal signaling.
The PDZD3 protein has a unique structure featuring three PDZ domains, which are protein-protein interaction modules that bind to other proteins containing specific peptide sequences. These interactions allow PDZD3 to form scaffolding complexes at the PSD, facilitating the assembly and function of various ion channels, receptors, and signaling molecules.
Associated Diseases
Mutations in the PDZD3 gene have been linked to several neurological disorders, including:
- Schizophrenia: PDZD3 disruptions have been implicated in the development of schizophrenia, a mental illness characterized by hallucinations, delusions, and disorganized thinking.
- Bipolar disorder: Studies suggest that PDZD3 alterations may contribute to the symptoms of bipolar disorder, a condition involving extreme mood swings.
- Autism spectrum disorder (ASD): Mutations in PDZD3 have been associated with a subset of ASD cases.
Did you Know ?
Approximately 1% of individuals with schizophrenia have been found to carry mutations in the PDZD3 gene.
