FAM198B
Understanding FAM198B: A Gene Linked to Neurological Conditions
Description
FAM198B (family with sequence similarity 198 member B) is a gene located on chromosome 17q21.31. It encodes a protein called FAM198B or FLEM (Fleming), which is involved in various cellular processes, including membrane trafficking, endocytosis, and autophagy. FAM198B plays a vital role in maintaining the health and function of neurons, the specialized cells that transmit electrical signals in the brain and spinal cord.
Associated Diseases
Mutations in the FAM198B gene have been linked to several neurological conditions, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and paralysis. Mutations in FAM198B have been identified in approximately 1-2% of familial ALS cases.
- Frontotemporal dementia (FTD): FTD is a group of neurodegenerative disorders that affect the frontal and temporal lobes of the brain, causing changes in behavior, personality, and language. Mutations in FAM198B have been implicated in a subset of FTD cases.
- Charcot-Marie-Tooth disease (CMT): CMT is a group of inherited peripheral neuropathies that cause damage to nerves in the arms and legs. Mutations in FAM198B have been identified in rare cases of CMT.
- Autism spectrum disorder (ASD): ASD is a neurodevelopmental disorder characterized by challenges in social interaction and communication. Mutations in FAM198B have been identified in a small number of individuals with ASD.
Did you Know ?
Research suggests that mutations in FAM198B account for approximately 1-2% of familial ALS cases. This highlights the importance of genetic testing in individuals with a family history of ALS to identify potential genetic causes.
