RAB3A
RAB3A Gene: A Gateway to Understanding Cellular Trafficking
Description
The RAB3A gene encodes a protein called RAB3A, a member of the RAB family of small GTPases. RAB proteins play crucial roles in vesicle trafficking, the cellular process by which cargo is transported within and between cells. RAB3A specifically regulates vesicle transport from the endoplasmic reticulum (ER) to the Golgi apparatus, the first stop on the secretory pathway.
Associated Diseases
Mutations in the RAB3A gene have been linked to several diseases, including:
- X-linked Intellectual Disability (XLID): Mutations in RAB3A can cause a rare form of XLID characterized by intellectual impairment, behavioral issues, and seizures.
- Hereditary Spastic Paraplegia (HSP): RAB3A mutations are also associated with certain types of HSP, a group of progressive neurological disorders marked by spasticity and weakness in the legs.
- Other Neurodegenerative Disorders: RAB3A dysfunction has been implicated in the pathogenesis of Alzheimer's disease, Huntington's disease, and Parkinson's disease.
Did you Know ?
Approximately 1 in 50,000 males worldwide is affected by X-linked intellectual disability caused by mutations in the RAB3A gene.
