FAM19A4
Description
FAM19A4, also known as family with sequence similarity 19 member A4, is a protein-coding gene that plays a crucial role in various cellular processes. It encodes a protein involved in protein degradation, specifically the ubiquitin-proteasome system (UPS).
The UPS is a cellular pathway responsible for the selective degradation of damaged or misfolded proteins. FAM19A4 functions as a deubiquitinase, an enzyme that removes ubiquitin tags from proteins. By altering the ubiquitination status of proteins, FAM19A4 can influence their stability, localization, and activity.
Associated Diseases
Mutations in the FAM19A4 gene have been linked to several diseases and disorders:
- Amyotrophic lateral sclerosis (ALS): ALS is a neurodegenerative disease characterized by the progressive loss of motor neurons. Mutations in FAM19A4 have been found in a subset of ALS patients, particularly those with juvenile-onset ALS.
- Parkinson's disease: Parkinson's disease is a movement disorder caused by the loss of dopamine-producing neurons in the brain. FAM19A4 mutations have been linked to a rare form of Parkinson's disease known as PARK28.
- ** Frontotemporal dementia (FTD):** FTD is a neurodegenerative disorder characterized by progressive loss of brain tissue in the frontal and temporal lobes. FAM19A4 mutations have been associated with a specific subtype of FTD known as FTD with motor neuron disease (FTD-MND).
Did you Know ?
Approximately 2% of juvenile-onset ALS cases and 1% of late-onset ALS cases are caused by mutations in the FAM19A4 gene.
