C2orf83
c2orf83: Unveiling a Little-Known Gene with a Big Impact
Description:
c2orf83 (chromosome 2 open reading frame 83) is an uncharacterized human gene located on chromosome 2. Despite its relatively recent discovery, c2orf83 has emerged as a gene of interest due to its potential role in various cellular processes and human diseases.
Structure and Function:
The c2orf83 gene contains a single exon and encodes a protein of approximately 160 amino acids. The protein structure consists of two predicted transmembrane domains, indicating its potential involvement in membrane-related functions. However, the exact molecular function of c2orf83 remains unclear.
Associated Diseases:
Research suggests that c2orf83 may play a role in several human diseases, including:
- Cancer: Reduced c2orf83 expression has been linked to increased cancer cell proliferation and decreased apoptosis in certain types of cancer, such as lung and colorectal cancer.
- Neurodegenerative disorders: Alterations in c2orf83 expression have been implicated in neurodegenerative conditions like Alzheimer's and Parkinson's diseases.
- Metabolic disorders: c2orf83 has been associated with metabolic disorders such as obesity and diabetes, potentially through its effects on glucose metabolism.
Did you Know ?
A large-scale genome-wide association study (GWAS) identified a common genetic variant near the c2orf83 gene that was significantly associated with higher body mass index (BMI). This finding suggests that c2orf83 may contribute to the genetic risk of obesity.