DISEASES

Disease-gene associations mined from literature

Literature associating TMPRSS3 and autosomal dominant nonsyndromic deafness 2A

TMPRSS3 [ENSP00000291532]

Tumor-associated differentially-expressed gene 12 protein; Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro); Belongs to the peptidase S1 family.

Synonyms:  TMPRSS3,  TMPRSS3p,  hTMPRSS3,  B7WPR2,  P57727 ...

Linkouts:  STRING  Pharos  UniProt  OMIM