C2orf57
c2orf57: A Gene with Emerging Importance in Human Health
Description
c2orf57 (chromosome 2 open reading frame 57) is a human gene located on chromosome 2. It encodes a protein known as FLJ20120 or FLJ42326, which plays a crucial role in various cellular functions. c2orf57 is highly conserved across species, indicating its evolutionary importance.
Associated Diseases
Dysregulation of c2orf57 has been implicated in the development of several diseases, including:
- Cancer: Altered c2orf57 expression has been observed in various cancers, including breast, lung, and colorectal cancer. Studies suggest that c2orf57 may contribute to tumor growth and metastasis.
- Neurodegenerative disorders: Mutations in c2orf57 have been associated with an increased risk of Alzheimer's disease and Parkinson's disease. It is believed that c2orf57 may play a role in the aggregation of misfolded proteins in these disorders.
- Autoimmune disorders: Abnormal c2orf57 expression has been linked to autoimmune diseases such as multiple sclerosis and rheumatoid arthritis. It is hypothesized that c2orf57 may regulate immune responses.
Did you Know ?
Recent research has shown that a specific variant of the c2orf57 gene, known as rs11018357, is associated with a 15% increased risk of developing breast cancer in postmenopausal women.
