RNF185
The RNF185 Gene: A Comprehensive Guide
Description
The RNF185 gene, located on chromosome 11p15.5, encodes a protein called ring finger protein 185 (RNF185). This protein is involved in various cellular processes, including ubiquitination, which plays a crucial role in protein degradation and signaling. RNF185 acts as an E3 ubiquitin ligase, attaching ubiquitin chains to target proteins, marking them for degradation or other cellular events.
Associated Diseases
Mutations in the RNF185 gene have been linked to several diseases, including:
- Papillary Thyroid Carcinoma (PTC): One of the most common types of thyroid cancer, PTC is often associated with RNF185 mutations. These mutations can lead to the dysregulation of ubiquitination, promoting tumor growth and progression.
- Colorectal Cancer (CRC): Mutations in RNF185 have also been implicated in CRC. Loss-of-function mutations in the gene can result in the accumulation of tumor-promoting proteins, contributing to cancer development.
- Glioma: RNF185 alterations have been observed in a significant number of glioma patients. These mutations can affect the ubiquitin-proteasome system, altering cellular signaling pathways and promoting tumorigenesis.
Did you Know ?
Approximately 20% of PTC cases harbor RNF185 mutations, making it one of the most prevalent genetic alterations in this type of thyroid cancer.
