ABI3BP
ABI3BP: A Gene Linked to Neurological Disorders
Description
ABI3BP (ABI3 binding protein) is a gene that encodes a protein involved in various cellular processes, primarily RNA metabolism and neuronal development. It interacts with a protein called ABI3 (ABL-interactor 3) and plays a crucial role in regulating the stability and translation of RNA molecules.
Associated Diseases
Mutations in the ABI3BP gene have been linked to a spectrum of neurological disorders, including:
- Spinocerebellar ataxia type 28 (SCA28): A progressive neurodegenerative disorder characterized by clumsiness, difficulty with coordination, and speech problems.
- Amyotrophic lateral sclerosis (ALS): An incurable neurodegenerative disease that affects motor neurons, leading to muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A type of dementia that primarily affects the frontal and temporal lobes of the brain, resulting in changes in personality, behavior, and language abilities.
Did you Know ?
Approximately 1 in 20,000 people worldwide are affected by SCA28, making it one of the less common forms of spinocerebellar ataxia. However, it is one of the most common genetic causes of ataxia in people of Japanese descent.
