GNB2L1
Title: GNB2L1: An Essential Protein in Maintaining Neurological Function
Description:
GNB2L1 (guanine nucleotide-binding protein beta polypeptide 2-like 1) is a crucial protein involved in various cellular processes, particularly in the nervous system. It plays a significant role in signal transduction pathways, mediating cellular responses to external stimuli. Mutations in the GNB2L1 gene can lead to a rare neurological disorder known as neurodevelopmental disorder with microcephaly, hypotonia, seizures, and intellectual disability (NHSMID).
Associated Diseases:
- Neurodevelopmental disorder with microcephaly, hypotonia, seizures, and intellectual disability (NHSMID): This condition is characterized by severe intellectual disability, microcephaly (small head size), hypotonia (weak muscle tone), and seizures. It is caused by mutations in the GNB2L1 gene.
- GNB2L1-related epilepsy: Some individuals with mutations in the GNB2L1 gene may develop epilepsy, characterized by recurrent seizures.
- Autism spectrum disorder (ASD): GNB2L1 has been implicated in the development of ASD, although the exact role is still under investigation.
Did you Know ?
- Mutations in the GNB2L1 gene are estimated to occur in approximately 1 in 100,000 individuals.
