FAM92B
Description of FAM92B
The FAM92B protein is a transmembrane protein that plays a crucial role in cellular processes, including membrane trafficking and cell adhesion.
Associated Diseases
Mutations in the FAM92B gene have been linked to a range of genetic disorders, including:
- Familial Amyotrophic Lateral Sclerosis (ALS): FAM92B mutations account for approximately 1-2% of familial ALS cases. ALS is a neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and eventually paralysis.
- Distal Spinal Muscular Atrophy (DSMA): FAM92B mutations are the most common genetic cause of DSMA, a condition characterized by progressive muscle weakness and atrophy in the hands, feet, and legs.
- Frontotemporal Dementia with Amyotrophic Lateral Sclerosis (FTD-ALS): FAM92B mutations have been identified in individuals with FTD-ALS, a form of dementia characterized by both cognitive and motor symptoms.
- Other Neurological Conditions: Mutations in FAM92B have also been associated with a variety of other neurological conditions, including spinal cord disease, cognitive impairment, and seizures.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide are estimated to carry a mutation in the FAM92B gene. However, the prevalence of FAM92B-associated diseases varies depending on the specific mutation and geographic region.
