TEKT3
The TEKT3 Gene: A Comprehensive Overview
Introduction
The TEKT3 gene, located on chromosome 11q13, encodes a protein called the transmembrane transport protein 3. This protein is involved in the transport of ions and molecules across cell membranes, playing a crucial role in various biological processes, including hearing and balance.
Description
The TEKT3 gene spans approximately 200 kilobases and consists of 27 exons. It produces multiple isoforms of the TEKT3 protein through alternative splicing. The protein is composed of 980 amino acids and contains several functional domains, including a transmembrane domain, a coiled-coil domain, and a conserved motif involved in ion transport.
Associated Diseases
Mutations in the TEKT3 gene have been linked to several diseases, primarily affecting the auditory and vestibular systems:
- Usher Syndrome Type 3 (USH3): The most common clinical manifestation of TEKT3 mutations is Usher Syndrome Type 3, a genetic condition characterized by congenital hearing loss and progressive vision loss due to retinitis pigmentosa.
- Nonsyndromic Hearing Loss: Some TEKT3 mutations can cause nonsyndromic hearing loss, ranging from mild to severe, without affecting vision.
- Vestibular Dysfunction: TEKT3 mutations have also been associated with vestibular disorders, such as dizziness and balance problems.
Did you Know ?
Usher Syndrome Type 3, caused by TEKT3 mutations, is estimated to affect approximately 1 in 100,000 individuals worldwide. It is one of the most common forms of inherited hearing loss-related disorders.
