TMPRSS3

Overview

TMPRSS3 (Transmembrane Protease, Serine 3) is a protein encoded by the TMPRSS3 gene in humans. It is a member of the serine protease family, which are enzymes that cleave peptide bonds in proteins. TMPRSS3 is primarily expressed in the inner ear and is crucial for normal hearing.

Structure

TMPRSS3 is a type II transmembrane serine protease. It consists of several domains, including a transmembrane domain, a low-density lipoprotein receptor class A (LDLRA) domain, a scavenger receptor cysteine-rich (SRCR) domain, and a serine protease domain. The serine protease domain is responsible for its enzymatic activity.

Function

TMPRSS3 plays a significant role in the development and maintenance of the inner ear. It is involved in the proteolytic activation of other proteins that are essential for auditory function. Mutations in the TMPRSS3 gene can lead to autosomal recessive non-syndromic hearing loss, highlighting its importance in auditory physiology.

Clinical Significance

Mutations in the TMPRSS3 gene are associated with non-syndromic hearing loss, specifically DFNB8 and DFNB10. These are forms of autosomal recessive deafness. The severity of hearing loss can vary, ranging from moderate to profound, and it can be either prelingual or postlingual.

Genetic Mutations

Several mutations in the TMPRSS3 gene have been identified, including missense, nonsense, and splice site mutations. These mutations can disrupt the normal function of the TMPRSS3 protein, leading to impaired auditory function.

Research and Therapeutic Approaches

Research is ongoing to better understand the role of TMPRSS3 in hearing and to develop potential therapies for hearing loss associated with TMPRSS3 mutations. Gene therapy and other molecular approaches are being explored as potential treatments.

Also see

• Serine protease
• Hearing loss
• Inner ear
• Genetic disorders