What gene is GJB2?

What gene is GJB2?

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. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss.

Is connexin 26 a 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.

How common is GJB2 mutation?

Val37Ile mutations are the most prevalent in the Asian population. The carrier frequency of GJB2 mutations in the control population is reported to be 2–4%15, 16, 17 in the US, in Europe, and in Korea, but the carrier frequency in the Japanese population has not yet been reported.

Where is connexin 26 gene located?

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 part of the ear does connexin 26 affect?

After birth, connexin expression gradually increases in the supporting cells of the cochlea [75, 77]. Prior to P8, immunostaining indicates that only Cx26 is expressed in the Claudius cells, Hensen’s cells and inner sulcus cells, although both Cx30 and Cx26 are distributed in the outer sulcus regions [78].