USP53
Description
The USP53 (ubiquitin specific peptidase 53) is a protein-coding gene located on chromosome 4.
USP53, encoded by the USP53 gene, is classified as a deubiquitinating enzyme based on sequence homology but lacks a functional histidine in its catalytic domain, rendering it catalytically inactive. Despite lacking enzymatic activity, USP53 plays crucial physiological roles. Mutations in USP53 have been linked to progressive hearing loss in mice and late-onset hearing loss and cholestasis in humans. USP53 localizes at cellular tight junctions and interacts with tight junction protein 2 (TJP2). Mutations in TJP2 have also been associated with hearing impairments and cholestasis.
USP53 is also known as PFIC7.
