The RNF213 gene provides instructions for making a protein whose role is unknown. The RNF213 protein, which is found in tissues throughout the body, contains specific regions (domains) that hint at possible functions. One domain, known as a RING finger, is found in proteins that have an enzyme activity known as E3 ubiquitin-protein ligase. Proteins with this activity target other proteins to be broken down (degraded) within cells. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. Proteins with a RING finger domain are involved in many different cellular functions, including cell growth and division, the transmission of chemical signals (signal transduction), and the self-destruction of cells (apoptosis).
The RNF213 protein also contains two regions called AAA+ ATPase domains. Proteins with these domains typically regulate mechanical processes in the cell, such as protein unfolding, DNA unwinding, or transporting molecules.
Although the function of the RNF213 protein is unknown, studies suggest that it plays a role in the proper development of blood vessels.
Other Names
ALK lymphoma oligomerization partner on chromosome 17; ALO17; C17orf27; E3 ubiquitin-protein ligase RNF213; KIAA1554; KIAA1618; MYMY2; mysterin; MYSTR; NET57; RN213_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 57674
- OMIM: 613768
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
