connexin 26

con·nex·in 26

(kŏ-neks'in),
The gap junction protein, the gene for which (Cx26), when mutated, accounts for a major portion of recessive nonsyndromic hearing impairment.

connexin 26

a protein found on the GJB2 gene. Autosomal-recessive mutation of the gene encoding it is the most common cause of congenital sensorineuronal hearing loss.

GJB2

A gene on chromosome 13q11-q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.

con·nex·in 26

(kon-eks'in)
The gap junction protein, the gene for which (Cx26) when mutated, accounts for a major portion of recessive nonsyndromic hearing impairment.
References in periodicals archive ?
The connexin proteins are named according to their weight; connexin 26 is a protein with a molecular weight of 26 kDa.
Most nonsyndromic genetic hearing loss is autosomal recessive, with mutation in the connexin 26 protein being the most common.
Avraham of the Department of Human Molecular Genetics and Biochemistry at the University of Sackler Faculty of Medicine and Yehoash Raphael of the Department of Otolaryngology-Head and Neck Surgery at University of Michigan's Kresge Hearing Research Institute, doctoral student Shaked Shivatzki created a mouse population possessing the gene that produces the most prevalent form of hearing loss in humans: the mutated connexin 26 gene.
Loricrin geninde ortaya cikan mutasyonlar sonucunda gelisen ve iktiyozun eslik ettigi Camisa tipi ve Connexin 26 genindeki mutasyonlarin neden oldugu, sagirlik ile seyreden VS olmak uzere (klasik tip) iki tipi tanimlanmistir.
Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
After more testing, the cause of Rachel's hearing loss was determined to be due to the 35delG mutation of the Connexin 26 gene.
In fact, incorporation of similar molecular genetic testing for connexin 26 mutations [gap junction beta-2 gene (GJB2)] in selected patients early in the diagnostic evaluation of childhood idiopathic sensorineural hearing loss was actually projected to improve cost-effectiveness in a recent evaluation (7).
ELISA has confirmed dose dependent increases in connexin 26 in DU-145; connexin 26, 40, and 45 in A549; connexin 32, 40, 43, and 45 in HS-578T; and connexin 45 in IMR-90.
A UCLA geneticist conducting clinical tests on Connexin 26, a gene linked to deafness, received a letter from Athena Diagnostics, a Massachusetts firm, informing him they owned the patent for Connexin 26.
Innogenetics' European-wide sales organization will market and distribute a number of Invader(R) clinical molecular diagnostic products for the genetic testing of risk factors in the areas of cardiovascular diseases, blood coagulation, and hearing disorders, including Factor V Leiden, Factor II (Prothrombin), Connexin 26, and others.
The GJB2 gene that encodes a protein called connexin 26 was demonstrated to be associated with 25% to 50% of the cases of hereditary deafness in Western countries, as well as in countries around the Mediterranean Sea.
The connexin 26 mutation throws light on some implications of this division.