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).
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.
Belongs to the peptidase C19 family.
Expressed predominantly in skeletal muscle and heart.
KIAA1350, USP53, Inactive ubiquitin carboxyl-terminal hydrolase 53, Inactive ubiquitin-specific peptidase 53
Proteins
120806Da
We found 1 product in 1 category