TMEM30C
TMEM30C: A Gene Linked to Multiple Sclerosis and Other Diseases
Description
TMEM30C (transmembrane protein 30C) is a gene located on the human chromosome 22. It encodes a protein that is present in the membranes of cells, specifically in lysosomes, which are organelles responsible for digesting and recycling cellular waste. TMEM30C plays a crucial role in maintaining the proper function of lysosomes, ensuring efficient waste clearance and cellular homeostasis.
Associated Diseases
Mutations in the TMEM30C gene have been linked to several diseases, including:
- Multiple Sclerosis (MS): MS is an autoimmune disease that affects the central nervous system, causing inflammation and damage to nerve cells. TMEM30C mutations are a significant risk factor for developing MS, with certain variations increasing the susceptibility to the disease.
- Frontotemporal Dementia (FTD): FTD is a neurodegenerative disorder that affects the frontal and temporal lobes of the brain, leading to progressive decline in cognitive abilities and behavior. TMEM30C mutations have been associated with an increased risk of FTD, particularly in individuals of Finnish descent.
- Parkinson's Disease (PD): PD is a neurodegenerative disorder that affects the brain's movement control regions. While TMEM30C mutations are not a major risk factor for PD, they have been linked to earlier onset and more severe disease progression.
Did you Know ?
- Approximately 2-5% of individuals with MS carry TMEM30C gene mutations.
