Taperin (TPRN)

Using targeted genome capture and sequence analysis, Rehman et al. (2010) identified TPRN as the gene mutated in DFNB79, a form of autosomal recessive nonsyndromic deafness linked to chromosome 9q34.3. Full-length TPRN encodes a deduced 711-amino acid protein. RT-PCR detected Tprn expression in all mouse tissues examined. Immunohistochemical analysis detected Tprn in the sensory epithelia of the mouse organ of Corti and vestibular end organs and, to a lesser extent, in Reisner membrane and the spiral ligament. In the organ of Corti, Tprn localized within the supporting cells and inner ear hair cell stereocilia, where it localized to the taper region of each stereocilium.TPRN expression in human fetal cochlea and in all mouse tissues examined.