FAM83B
Fam83b: An Essential Gene Involved in Neurogenesis and Cell Adhesion
Description
Fam83b (family with sequence similarity 83, member B) is a gene that encodes a protein essential for neurogenesis, the process of new neuron formation in the brain. It is a transmembrane protein localized to the plasma membrane, where it plays a crucial role in cell adhesion and migration.
Associated Diseases
Mutations in the fam83b gene have been linked to a range of neurological disorders, including:
- Intellectual disability: Mutations in fam83b are associated with intellectual disability, often accompanied by behavioral problems and language delays.
- Microcephaly: Fam83b mutations can also cause microcephaly, a condition characterized by an unusually small head and brain.
- Epilepsy: Some individuals with fam83b mutations experience seizures, suggesting a role for the gene in epilepsy development.
Did you Know ?
Approximately 1 in 10,000 individuals are estimated to carry a fam83b mutation associated with intellectual disability.
