SHANK1
The Shank1 Gene: A Key Player in Brain Health and Development
Description
The Shank1 gene encodes a protein called Shank1, short for SH3 and ankyrin repeat domain protein 1. Shank1 is a scaffolding protein that plays a crucial role in the formation and function of synapses, the connections between nerve cells. It helps to organize and stabilize protein complexes at the postsynaptic membrane, the part of the synapse that receives signals.
Associated Diseases
Mutations in the Shank1 gene have been linked to several neurodevelopmental and psychiatric disorders, including:
- Autism spectrum disorder (ASD): Shank1 is one of the most commonly implicated genes in ASD. Individuals with Shank1 mutations may exhibit impaired social communication, repetitive behaviors, and intellectual disability.
- Intellectual disability (ID): Shank1 mutations can also cause intellectual disability, ranging from mild to severe.
- Schizophrenia: Some individuals with schizophrenia have been found to have Shank1 mutations.
- Other neurodevelopmental disorders: Shank1 mutations have also been associated with Phelan-McDermid syndrome, Down syndrome, and Angelman syndrome.
Did you Know ?
According to recent research, rare mutations in the Shank1 gene are estimated to affect approximately 1 in 3,000 individuals. These mutations can have a significant impact on brain development and function.
