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Vol. 16, No. 2-3, 2005 Journal of Basic & Clinical Physiology & Pharmacology
 

Summary: Vol. 16, No. 2-3, 2005 Journal of Basic & Clinical
Physiology & Pharmacology
2005 Freund Publishing House Ltd. 1
CONNEXINS IN HEARING LOSS:
A COMPREHENSIVE OVERVIEW
Adi D. Sabag, Orit Dagan and Karen B. Avraham
Department of Human Genetics and Molecular Medicine,
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
ABSTRACT
Connexins are a family of transmembrane proteins that form gap
junctions between adjacent cells and allow intercellular communica-
tion. Connexin proteins are involved in pathological conditions in
humans, mainly in hearing loss, neurodegenerative disorders and skin
diseases. The association between connexin proteins and the inner ear
is well established. The abundant expression of connexins in the
auditory system of the inner ear demonstrates their importance in
inner ear development and the hearing process. Most compelling,
there are over 100 mutations in genes encoding connexins that are
associated with deafness. Most prominent is the remarkable
involvement of connexin 26 in hearing loss. Mutations in the gene

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine