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Article

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Frontiers in bioscience : a journal and virtual library - 1 Jan 2008

Guipponi Michel, Antonarakis Stylianos Emmanuel, Scott Hamish Steele

Abstract excerpt

Recently, we and others have shown that mutations in TMPRSS3 were responsible for autosomal recessive non-syndromic hearing loss. TMPRSS3 is a member of the Type II Transmembrane Serine Protease (TTSP) family and encodes for a protease that also contains LDLRA (low-density lipoprotein receptor class A) and SRCR (scavenger receptor cysteine rich) domains. Fourteen pathogenic mutations, which occur not only in the...

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Source

Identifiers

PMID: 17981648
DOI: 10.2741/2780

Genes

TMPRSS3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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