RNF19B
Description
The RNF19B (ring finger protein 19B) is a protein-coding gene located on chromosome 1.
RNF19B is an E3 ubiquitin-protein ligase that accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 and transfers it to substrates like UCKL1. It plays a role in the cytolytic activity of natural killer cells and cytotoxic T-cells and protects against staurosporin-induced cell death.
RNF19B is also known as IBRDC3, NKLAM.
Associated Diseases
- granular corneal dystrophy type I
- idiopathic hypereosinophilic syndrome
- X-linked endothelial corneal dystrophy
- lattice corneal dystrophy type I
- beta-thalassemia-X-linked thrombocytopenia syndrome
- granular corneal dystrophy type II
- neutropenia, severe congenital, 1, autosomal dominant
- thrombocytopenia 7
- erythroleukemia, familial, susceptibility to
- X-linked sideroblastic anemia 1
- corneal endothelial dystrophy
