基因名：
RNF19A
产品别名：
RNF19； RNF19A； ring finger protein 19A, RBR E3 ubiquitin protein ligase； ring finger protein 19A, RBR E3 ubiquitin protein ligase； E3 ubiquitin-protein ligase RNF19A； double ring-finger protein； protein p38 interacting with transcription factor Sp1； ring finger protein 19A, E3 ubiquitin protein ligase； ring-IBR-ring domain containing protein Dorfin； 环指蛋白19；
背景信息：
Dorfin is a multi-pass membrane, RING-IBR type, E3 ubiquitin-protein ligase. It is widely expressed with highest levels found in heart and ubiquitous expression throughout the central nervous system. Dorfin functions by accepting ubiquitin in the form of a thioester from UBCH7 and UBC8 and then transferring it to the targeted substrates. Dorfin is responsible for ubiquitylating synphilin-1, CaSR and mutant variants of SOD-1, a protein at fault for familial ALS (amyotrophic lateral sclerosis). Dorfin physically interacts with VCP (Valosin-containing protein) via its C-terminus. Together these two proteins are associated with the formation of ubiquitylated inclusions (UBIs) that characterize many neurodegenerative disorders, such as Parkinson’s disease and ALS. This association with UBIs suggests that Dorfin plays an important role in the disease process.
