RBM27
The RBM27 Gene: A Comprehensive Guide
Description
The RBM27 gene, located on chromosome 12q24.21, encodes a RNA-binding protein that plays a crucial role in various cellular processes. It is primarily involved in pre-mRNA splicing, a process that removes introns (non-coding regions) and joins together exons (coding regions) to create mature messenger RNA (mRNA). RBM27 ensures the accurate splicing of specific genes, influencing protein synthesis and cellular function.
Associated Diseases
Mutations in the RBM27 gene have been associated with several genetic disorders, including:
- Spinocerebellar ataxia type 27 (SCA27): A rare neurodegenerative disorder characterized by progressive ataxia (difficulty with coordination and balance), speech problems, and eye movement abnormalities.
- Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects motor neurons, leading to muscle weakness and atrophy.
- Frontotemporal dementia (FTD): A group of disorders that cause degeneration of the frontal and temporal lobes of the brain, resulting in behavioral changes, memory loss, and language difficulties.
Did you Know ?
- Approximately 1 in 100,000 individuals worldwide are affected by SCA27, a condition primarily caused by mutations in the RBM27 gene.
