FAM195B
FAM195B: A Gene Linked to Amyotrophic Lateral Sclerosis (ALS)
Description
What is FAM195B? FAM195B is a gene that encodes a protein called family with sequence similarity 195, member B. This protein is involved in various cellular processes, including DNA repair and chromatin regulation.
FAM195B and RNA Granules Fam195B is a component of RNA granules, which are membraneless organelles found in the cytoplasm of cells. RNA granules play essential roles in mRNA processing, translation, and storage.
FAM195B Mutations in ALS Mutations in the FAM195B gene have been identified as a cause of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by the progressive loss of motor neurons.
Associated Diseases
Amyotrophic Lateral Sclerosis (ALS) ALS is the most common form of motor neuron disease, affecting approximately 5 in 100,000 people worldwide. ALS causes muscle weakness and atrophy, gradually leading to paralysis and respiratory failure.
Other Neurological Disorders FAM195B mutations have also been associated with other neurological disorders, including:
- Frontotemporal dementia (FTD)
- Spinocerebellar ataxia
- Alzheimer's disease
Did you Know ?
Prevalence of FAM195B Mutations in ALS FAM195B mutations account for approximately 2-5% of familial ALS cases, which are cases with a known genetic basis. However, the prevalence of FAM195B mutations in sporadic ALS cases (cases with no known genetic cause) is estimated to be less than 1%.
