LRRC6
LRRC6: A Vital Protein in Neuronal Development and Function
Description:
LRRC6 (leucine-rich repeat-containing 6) is a protein that plays a crucial role in neuronal development and function. It is a component of the NR3B subunit of the NMDA receptor, which is responsible for mediating excitatory neurotransmission in the brain. LRRC6 also interacts with other proteins involved in synaptic plasticity, such as PSD-95 and CaMKII.
Associated Diseases:
Mutations in the LRRC6 gene have been linked to several neurological disorders, including:
- Autism Spectrum Disorder (ASD): LRRC6 mutations are associated with an increased risk of developing ASD, a complex neurodevelopmental disorder characterized by difficulties with social interaction and communication.
- Schizophrenia: LRRC6 mutations have been identified in individuals with schizophrenia, a severe mental illness characterized by hallucinations, delusions, and cognitive impairments.
- Epilepsy: LRRC6 mutations have been associated with an increased risk of developing epilepsy, a disorder characterized by recurrent seizures.
- Intellectual Disability: Mutations in LRRC6 have been identified in individuals with intellectual disability, a condition characterized by significant limitations in intellectual functioning.
Did you Know ?
Approximately 1-2% of individuals with ASD have mutations in the LRRC6 gene. This suggests that LRRC6 plays a significant role in the development and function of the brain.
