C6orf203
c6orf203: A Comprehensive Guide to Its Role in Health and Disease
Description
c6orf203, also known as chromosome 6 open reading frame 203, is a protein-coding gene located on chromosome 6 in humans. The protein encoded by c6orf203 is a transmembrane protein that is mainly expressed in the endoplasmic reticulum (ER). It is involved in various cellular processes, including ER stress response, calcium homeostasis, and apoptosis.
Associated Diseases
Mutations in the c6orf203 gene have been linked to several inherited disorders, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a neurodegenerative disease that affects the motor neurons in the brain and spinal cord. Mutations in c6orf203 are a rare cause of familial ALS, accounting for about 1% of cases.
- Frontotemporal dementia (FTD): FTD is a neurodegenerative disease that affects the frontal and temporal lobes of the brain. Mutations in c6orf203 are one of the most common genetic causes of FTD.
- Parkinson's disease: Parkinson's disease is a neurodegenerative disease that affects the movement and coordination of the body. Mutations in c6orf203 have been identified in some cases of Parkinson's disease.
Did you Know ?
A study published in the journal "Neurology" found that mutations in c6orf203 are more common in people with ALS from Finland than in people with ALS from other parts of the world. This suggests that there may be a genetic predisposition to ALS caused by c6orf203 mutations in certain populations.
