FBXO42
Description
The FBXO42 (F-box protein 42) is a protein-coding gene located on chromosome 1.
FBXO42 acts as a substrate recognition component within certain SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes. It specifically identifies and binds to the tumor suppressor protein p53 (TP53), leading to its ubiquitination and subsequent degradation.
FBXO42 is also known as Fbx42, JFK.
Associated Diseases
- lysosomal storage disease
- breast cancer
- arrhythmogenic right ventricular dysplasia 10
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- Brugada syndrome
- progressive familial heart block, type 1A
- dehydrated hereditary stomatocytosis
