RNF43

From WikiMD's Wellness Encyclopedia

RNF43 is a protein that in humans is encoded by the RNF43 gene. RNF43 is an enzyme that functions as an E3 ubiquitin-protein ligase, a type of protein that tags other proteins for degradation. This protein plays a crucial role in cell growth and cell division, particularly in the gastrointestinal tract.

Function[edit | edit source]

RNF43 is a member of the RING finger protein family. It is an E3 ubiquitin-protein ligase that accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. This protein plays a role in the Wnt signaling pathway, a pathway that is involved in cell growth and differentiation. It negatively regulates the pathway by targeting the Frizzled receptor for ubiquitination and degradation.

Clinical significance[edit | edit source]

Mutations in the RNF43 gene have been associated with various types of cancer, including colorectal cancer, pancreatic cancer, and ovarian cancer. These mutations often result in a loss of function of the RNF43 protein, leading to an overactivation of the Wnt signaling pathway and uncontrolled cell growth.

File:RNF43 protein structure.jpg
The structure of the RNF43 protein. Image from Wikimedia Commons.

See also[edit | edit source]

References[edit | edit source]


Contributors: Prab R. Tumpati, MD