C20orf27
C20orf27: A Gene with Potential Implications for Human Health
Description
C20orf27 is a gene located on chromosome 20 in humans. It encodes a protein known as chromosome 20 open reading frame 27 (C20orf27) that plays a crucial role in various cellular processes, including DNA replication and repair. The C20orf27 protein is composed of several domains, including a BRCT domain, which is involved in DNA repair, and a JmjC domain, which is associated with histone demethylation.
Associated Diseases
Studies have linked mutations in the C20orf27 gene to several human diseases, including:
- Colorectal cancer: Mutations in C20orf27 have been identified in approximately 10% of colorectal cancers. These mutations can lead to loss of C20orf27 function, resulting in impaired DNA repair and increased genomic instability, which contribute to cancer development.
- Neurodevelopmental disorders: Mutations in C20orf27 have also been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability. These mutations are believed to disrupt C20orf27's role in DNA repair and neuronal development.
- Other diseases: C20orf27 mutations have also been linked to other diseases such as pancreatic cancer, breast cancer, and infertility. The specific roles of C20orf27 in the pathogenesis of these diseases are still being investigated.
Did you Know ?
A recent study found that the frequency of C20orf27 mutations in colorectal cancer varies significantly among different populations. For example, in the United States, C20orf27 mutations are found in approximately 10% of colorectal cancers, while in Asian populations, the frequency is significantly lower at around 2-3%. This suggests that genetic factors and environmental exposures may influence the risk of developing colorectal cancer associated with C20orf27 mutations.
