INMT-FAM188B
INMT-FAM188B: An Emerging Player in Neurodegenerative Diseases
Description
INMT-FAM188B is a gene that encodes a protein involved in the ubiquitin-proteasome system, a cellular pathway responsible for degrading damaged or misfolded proteins. Mutations in INMT-FAM188B lead to the accumulation of toxic proteins within neurons, contributing to neurodegenerative disorders.
Associated Diseases
Mutations in INMT-FAM188B have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disorder that affects motor neurons, leading to progressive muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A progressive dementia characterized by changes in behavior, personality, and language.
- Juvenile amyotrophic lateral sclerosis (JALS): A rare form of ALS that occurs in children and adolescents.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide has a mutation in the INMT-FAM188B gene. The incidence of mutations is higher in certain populations, such as individuals of Scandinavian descent.
