Primary Identifier | IPR033359 | Type | Family |
Short Name | TPRN |
description | Taperin (TPRN) is a PP1 binding protein that is ancestrally related tophostensin. It localised prominently at the taper regions of hair cell stereocilia and has a role in sound perception []. Defects in human TPRN are the cause of deafness autosomal recessive type 79 (DFNB79). DFNB79 is characterised by progressive hearing loss leading to profound deafness. There are no symptoms of vestibular dysfunction [, ]. |