RNF19B

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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