KIRREL1
Description
The KIRREL1 gene encodes a protein called ‘kinase-interacting protein 1‘ (KIRREL1), a transmembrane protein that plays a crucial role in synapse formation and function. KIRREL1 interacts with various signaling molecules and proteins, participating in the development and maintenance of neuronal connections. It is particularly important in the formation of excitatory synapses, where it helps regulate the assembly of postsynaptic density (PSD), a complex structure that plays a vital role in signal transduction.
Associated Diseases
- Neurodevelopmental disorders: KIRREL1 mutations have been associated with autism spectrum disorder (ASD) and intellectual disability.
- Epilepsy: Some studies suggest a potential link between KIRREL1 dysfunction and epilepsy.
- Schizophrenia: Alterations in KIRREL1 expression have been observed in individuals with schizophrenia.
- Other neurological disorders: The role of KIRREL1 in other neurological conditions, such as Alzheimer‘s disease and Parkinson‘s disease, is under investigation.
Did you know?
KIRREL1 is highly expressed in the brain, particularly in regions involved in learning and memory.
