USP53
Function
Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions. Has no peptidase activity (PubMed:14715245).
Involvement in disease
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
PFIC7
An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients develop hearing loss in childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase C19 family.
Tissue Specificity
Expressed predominantly in skeletal muscle and heart.
Cellular localization
- Cell junction
- Tight junction
Alternative names
KIAA1350, USP53, Inactive ubiquitin carboxyl-terminal hydrolase 53, Inactive ubiquitin-specific peptidase 53