UNC13D : unc-13 homolog D

Description

UNC13D, also known as Munc13-3, is a protein crucial for regulating synaptic vesicle exocytosis, the process by which neurotransmitters are released from nerve cells. It functions as a scaffold protein, interacting with various components of the presynaptic machinery to facilitate vesicle priming and fusion. UNC13D plays a critical role in neuronal communication, ensuring efficient and precise neurotransmitter release, thereby influencing synaptic plasticity and neuronal circuit function.

Associated Diseases

• Neurodevelopmental disorders
• Intellectual disability
• Autism spectrum disorder
• Epilepsy
• Schizophrenia

Did you know?

Mutations in the UNC13D gene have been linked to a rare neurological disorder called "synaptotagmin-like protein 1 deficiency syndrome", which is characterized by severe intellectual disability, epilepsy, and other developmental abnormalities.