UBE3D
Description
The UBE3D (ubiquitin protein ligase E3D) is a protein-coding gene located on chromosome 6.
UBE3D acts as an E3 ubiquitin ligase, accepting ubiquitin from specific E2 enzymes and transferring it to target proteins. This process typically leads to the degradation of these substrates via the proteasome.
UBE3D is also known as C6orf157, H10BH, UBE2CBP, YJR141W.
Associated Diseases
- retinitis pigmentosa
- choroidal dystrophy, central areolar, 1
- choroideremia
- Leber congenital amaurosis
- Stargardt disease
- central areolar choroidal dystrophy
