RNF213 : ring finger protein 213

Description

RNF213, also known as RING finger protein 213, is a gene that encodes a protein involved in a variety of cellular processes, including protein ubiquitination, vascular development, and immune response. The protein product of RNF213, called RNF213 protein, plays a critical role in regulating the activity of other proteins by attaching a small protein tag called ubiquitin. This process, known as ubiquitination, can alter the stability, localization, or activity of target proteins. Mutations in RNF213 have been linked to several human diseases, highlighting its importance in maintaining cellular homeostasis.

Associated Diseases

• Moyamoya disease
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
• Stroke
• Atherosclerosis
• Neurodevelopmental disorders

Did you know?

RNF213 is a large gene with over 100 exons, making it one of the largest genes in the human genome.