FAM27B
FAM27B: An Essential Gene in Neurodevelopment and Beyond
Description
FAM27B is a gene that encodes a protein called family with sequence similarity 27, member B. This protein is highly conserved across species, suggesting its importance in fundamental biological processes. FAM27B is primarily localized to the Golgi apparatus, an organelle responsible for protein sorting, modification, and trafficking.
Associated Diseases
Mutations in the FAM27B gene have been linked to several neurological disorders, including:
- Spinocerebellar ataxia 27 (SCA-27): A rare, inherited condition characterized by progressive degeneration of the cerebellum and spinal cord, leading to difficulty with coordination, speech, and swallowing.
- Intellectual disability: Some FAM27B mutations have been identified in individuals with intellectual disability, often accompanied by developmental delays and behavioral challenges.
- Epilepsy: Certain FAM27B mutations have been associated with an increased risk of seizures.
Did you Know ?
Mutations in FAM27B are responsible for approximately 5% of cases of spinocerebellar ataxia, a group of inherited neurodegenerative disorders.
