FAM9B
FAM9B: An Important Gene Associated with Neurological Disorders
Description
FAM9B, also known as family with sequence similarity 9 member B, encodes a protein involved in various cellular processes, including protein synthesis, cell cycle regulation, and apoptosis.
The FAM9B protein consists of two domains:
- N-terminal region: Involved in binding to DNA and regulating gene expression.
- C-terminal region: Contains a leucine zipper motif that mediates protein-protein interactions.
FAM9B is primarily expressed in the brain, where it plays a crucial role in neuronal development and function. It is also expressed in other tissues, such as the heart, liver, and kidneys.
Associated Diseases
Mutations in the FAM9B gene have been linked to several neurological disorders, including:
- Spinocerebellar ataxia type 36 (SCA36): A rare neurodegenerative disorder characterized by progressive degeneration of the cerebellum and spinal cord. Symptoms include speech difficulties, incoordination, and muscle weakness.
- Frontotemporal dementia (FTD-FAM9B): A type of dementia characterized by progressive loss of function in the frontal and temporal lobes of the brain. Symptoms include impaired judgment, language problems, and behavioral changes.
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disorder that affects motor neurons, leading to muscle weakness, paralysis, and eventually death.
Did you Know ?
Approximately 1 in 100,000 people worldwide have FAM9B-related disorders, making them rare but important conditions to study.
