MGC45922
Headline: Understanding MGC45922: A Novel Gene Linked to Neurodevelopmental Disorders
Introduction:
MGC45922 is an intriguing gene that has recently gained significant attention in the field of neurodevelopmental disorders. Its discovery and subsequent research have shed light on its crucial role in brain development and function, as well as its potential implications for a range of neurological conditions.
Description:
MGC45922, also known as TARPγ-8, is a gene located on chromosome 11q14.1. It encodes a protein that belongs to the transmembrane AMPA receptor regulatory protein (TARP) family. TARPs play essential roles in regulating the activity and trafficking of AMPA-type glutamate receptors, which are responsible for mediating most excitatory synaptic transmission in the brain.
Associated Diseases:
Mutations in MGC45922 have been linked to a spectrum of neurodevelopmental disorders, including:
- Intellectual disability (ID): MGC45922 mutations have been identified in individuals with intellectual disability of varying degrees.
- Autism spectrum disorder (ASD): Studies have shown an association between MGC45922 variants and increased risk for ASD, particularly in individuals with intellectual disability.
- Epilepsy: Certain MGC45922 mutations have been associated with increased susceptibility to epilepsy, characterized by recurrent seizures.
- Schizophrenia: Recent research suggests a potential link between MGC45922 and schizophrenia, a severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
- Mutations in MGC45922 are estimated to account for approximately 1% of cases of intellectual disability with an underlying genetic basis.
