Where is the GJB2 gene located?
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues.
What is GJB2 gene?
GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include Vohwinkel Syndrome and Bart-Pumphrey Syndrome. Among its related pathways are Transport of connexins along the secretory pathway and Gap junction trafficking.
What is connexin 26 gene?
Connexin 26 is actually a protein found in the gap junction beta 2 (GJB2) gene. This protein is needed to allow cells to communicate with each other. If there is not enough Connexin 26 protein, the potassium levels in the inner ear become too high and damage hearing.
What does connexin 26 affect?
Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease.
Where is connexin 26 found?
Connexin 26 is found in cells throughout the body, including the inner ear. Because of its presence in the inner ear, especially the snail-shaped structure called the cochlea, researchers are interested in this protein’s role in hearing.
What type of mutation is GJB2 related deafness?
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as “DFNB1.” Studies indicate that DFNB1 (13q11-12) causes 20% of all childhood deafness and may have a carrier rate as high as 2.
Is GJB2 recessive?
Is GJB2 hearing loss progressive?
Mutations in GJB2 are the most common cause of recessive hearing loss. The hearing losses range from mild to profound and are usually congenital. Of the two-thirds of our patients who presented with mild to severe SNHL owing to biallelic GJB2 mutations, 56% experienced progressive hearing loss.
