Gene: UCHL3

Alternate names for this Gene: UCH-L3

Gene Summary: The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Gene is located in Chromosome: 13

Location in Chromosome : 13q22.2

Description of this Gene: ubiquitin C-terminal hydrolase L3

Type of Gene: protein-coding

rs2031236 in UCHL3 gene and Diabetic Retinopathy PMID 23562823 2013 Genome-wide association study in a Chinese population with diabetic retinopathy.