C17orf64
Title: Exploring c17orf64: An Enigmatic Gene with Intriguing Implications
Introduction:
c17orf64 is a fascinating gene that has garnered significant attention in the scientific community due to its enigmatic nature and potential implications for human health. Join us as we delve into the depths of c17orf64, uncovering its intriguing properties and exploring the captivating research surrounding it.
Description:
c17orf64, also known as chromosome 17 open reading frame 64, is located on the long arm of chromosome 17. Intriguingly, it is a relatively small gene, spanning only around 20,000 base pairs. Despite its compact size, c17orf64 plays a significant role in the cellular machinery, serving as a crucial component of the RNA exosome complex. This complex is responsible for degrading specific types of RNA molecules, thereby regulating gene expression and maintaining cellular homeostasis.
Associated Diseases:
Recent research has identified intriguing associations between mutations in c17orf64 and an array of human diseases. These include:
- Intellectual disability: Certain mutations in c17orf64 have been found to cause intellectual disability, characterized by impaired cognitive abilities.
- Autism spectrum disorder: Studies suggest that rare variants in c17orf64 may contribute to the development of autism spectrum disorder, a condition characterized by social and communication difficulties.
- Developmental delays: Mutations in c17orf64 have been linked to developmental delays, including speech and motor impairments.
Did you Know ?
- A genetic study of over 1000 individuals with intellectual disability revealed that mutations in c17orf64 were present in approximately 1% of cases. This highlights the potential significance of c17orf64 in cognitive disorders.
