The UBE3B gene provides instructions for making a protein that plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down (degrades) unwanted proteins.
The UBE3B protein is called an E3 ubiquitin ligase. E3 ubiquitin ligases function as part of the ubiquitin-proteasome system by forming part of a protein complex that tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell’s quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. The specific proteins tagged by complexes involving the UBE3B protein are unknown, but research suggests that the protein functions in the nervous system, digestive tract, respiratory system, and other organs and tissues, from before birth into adulthood.
Other Names
BPIDS; HECT-type ubiquitin transferase E3B; KOS; ubiquitin-protein ligase E3B isoform 1; ubiquitin-protein ligase E3B isoform 3
Related Genetics Topics
Identifiers
- NCBI Gene: 89910
- OMIM: 608047
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
