C2orf82
C2orf82: A Gene with Intriguing Impacts on Health
Description
C2orf82 is a gene located on chromosome 2 in humans. It was first identified in 2001 and has since been found to play a role in various biological processes, including cell cycle regulation, DNA repair, and apoptosis (programmed cell death).
The protein encoded by the C2orf82 gene, also known as C2orf82 protein, is localized to the mitochondria, which are the energy powerhouses of cells. It has been shown to interact with several other proteins involved in mitochondrial function and apoptosis, suggesting its involvement in these pathways.
Associated Diseases
Mutations in the C2orf82 gene have been linked to several human diseases, including:
- Charcot-Marie-Tooth disease type 2, subtype F (CMT2F): A progressive neurological disorder that affects nerves in the arms and legs, causing muscle weakness, atrophy, and loss of sensation.
- Polycystic kidney disease (PKD): A genetic condition characterized by the formation of multiple cysts in the kidneys, leading to impaired kidney function.
- Colorectal cancer: C2orf82 mutations have been found in a small number of colorectal cancer cases, suggesting a potential role in tumor development.
- Age-related macular degeneration (AMD): A leading cause of vision loss in the elderly, associated with changes in the retina.
Did you Know ?
A study published in 2021 found that mutations in the C2orf82 gene are present in approximately 0.5% of all individuals with Charcot-Marie-Tooth disease.
