Disease-gene associations mined from literature

Literature associating USP53 and hypertrichotic osteochondrodysplasia Cantu type

USP53 [ENSP00000409906]

Inactive ubiquitin carboxyl-terminal hydrolase 53; 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 (By similarity). Has no peptidase activity; Ubiquitin specific peptidases

Synonyms:  USP53,  USP53p,  hUSP53,  D6RF54,  H0Y8Q1 ...

Linkouts:  STRING  Pharos  UniProt