GRM4
grm4: A Gene with Intriguing Roles in Neuronal Development and Disease
Description
grm4, also known as the metabotropic glutamate receptor 4, is a protein encoded by the gene of the same name. It belongs to the family of metabotropic glutamate receptors (mGluRs), which are responsible for modulating neuronal signaling in the central nervous system. grm4 is primarily expressed in the cerebellum, a brain region involved in coordination and motor control.
Associated Diseases
Mutations in grm4 have been linked to several neurological disorders, including:
- Spinocerebellar ataxia type 7 (SCA7): A progressive neurodegenerative disorder characterized by difficulties with movement, speech, and balance.
- Mental retardation with pontine and cerebellar hypoplasia: A rare condition that results in severe intellectual disability, abnormal brain development, and muscle weakness.
- Epilepsy: Seizures can be a symptom of certain grm4 mutations.
Did you Know ?
A study of over 1,000 individuals with SCA7 found that mutations in grm4 accounted for approximately 39% of cases.
