C6orf99
The Curious Case of c6orf99: A Gene Linked to Bone Disease and Beyond
Description
c6orf99 (Chromosome 6 Open Reading Frame 99) is a gene located on chromosome 6 in humans. It encodes a protein known as WIPI-4, which plays a crucial role in various cellular processes, including autophagy, a fundamental cellular recycling mechanism. Autophagy is essential for maintaining cellular homeostasis by removing damaged organelles and proteins.
Associated Diseases
Mutations in the c6orf99 gene have been strongly associated with a rare bone disease called autosomal dominant osteopetrosis type II (ADO2). ADO2 is characterized by increased bone density due to excessive bone formation. Individuals with ADO2 often experience bone pain, fractures, hearing loss, and respiratory issues.
In addition to ADO2, c6orf99 mutations have also been linked to other conditions, such as:
- Schimke immuno-osseous dysplasia (SIOD): A rare genetic disorder characterized by bone growth abnormalities, kidney problems, and immune system issues.
- Osteosclerosis: A condition characterized by excessive bone growth, leading to increased bone density.
- Cancer: Some studies suggest that c6orf99 mutations may be associated with an increased risk of certain types of cancer, including breast cancer and melanoma. However, more research is needed to confirm this link.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by ADO2, the primary disease associated with c6orf99 mutations. This rare condition highlights the significant impact that genetic variations can have on human health.
