Article
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Human molecular genetics - 1 Nov 2002
Guipponi Michel, Vuagniaux Grégoire, Wattenhofer Marie, Shibuya Kazunori, Vazquez Maria, Dougherty Loretta, Scamuffa Nathalie, Guida Elizabeth, Okui Michiyo, Rossier Colette, Hancock Manuela, Buchet Karine, Reymond Alexandre, Hummler Edith, Marzella Phillip L, Kudoh Jun, Shimizu Nobuyoshi, Scott Hamish S, Antonarakis Stylianos E, Rossier Bernard C
Abstract excerpt
TMPRSS3 encodes a transmembrane serine protease that contains both LDLRA and SRCR domains and is mutated in non-syndromic autosomal recessive deafness (DFNB8/10). To study its function, we cloned the mouse ortholog which maps to Mmu17, which is structurally similar to the human gene and encodes a polypeptide with 88% identity to the human protein. RT-PCR and RNA in situ hybridization on rat and mouse cochlea...
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