UCHL5
Description
The UCHL5 (ubiquitin C-terminal hydrolase L5) is a protein-coding gene located on chromosome 1.
Ubiquitin carboxyl-terminal hydrolase isozyme L5 is an enzyme that in humans is encoded by the UCHL5 gene.
UCHL5 is a protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. It acts as a deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. While it is a putative regulatory component of the INO80 complex, it is inactive within this complex. However, UCHL5 is activated through a transient interaction of the INO80 complex with the proteasome mediated by ADRM1.
UCHL5 is also known as CGI-70, INO80R, UCH-L5, UCH37.
Associated Diseases
- ovarian cancer
- urinary bladder carcinoma
- hydrolethalus syndrome 2
- hydrocephalus, congenital, 3, with brain anomalies
- X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
- polymicrogyria with optic nerve hypoplasia
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
