connexin-26

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.

connexin-26

One of a number of gap junction connexin proteins. Gap junctions between cells allow the passage of ions and small molecules from one cell to another. The gene for connexin-26 has been located and is situated on chromosome 13. A single base deletion mutation of this gene results in the complete absence of this connexin, and the only effect detected to date is a recessive form of sensorineural deafness.
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References in periodicals archive ?
Children with severe to profound or deteriorating hearing loss also underwent radiologic evaluation with computed tomography and magnetic resonance imaging, and they were referred for genetic testing for connexin-26 protein.
Clinical features of prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Clinical features of the prevalent form of the childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
KID is inherited by an autosomal dominant transmission, with a mutation present in the Connexin-26 gene, which is a structural protein [1-4].
Van Camp, "Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method," Human Mutation, vol.
Lye, "Expression of connexin-43 and connexin-26 in the rat myometrium during pregnancy and labor is differentially regulated by mechanical and hormonal signals," Endocrinology, vol.
Connexin-26 mutations in deafness and skin disease.
To analyze the closed state structure of a gap junction channel, an M34A mutant of connexin-26, which is related to hearing loss, was expressed in Sf9 cells and its structure was analyzed by electron crystallography.
Clinical features of the prevalent form of childhood deafness DFNB1 due to a connexin-26 gene defect implication for genetic conselling.
A novel deletion involving the connexin-30 gene, del(GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Prevalende of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
High prevalence of the W24X mutation in the gene encoding Connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive non-syndromic hearing loss.