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.
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 the prevalent form of the childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Connexin-26 mutations in deafness and skin disease.
This X-ray structure of wild-type connexin-26 could not explain the multiple gating mechanism of gap junction channels, because the cytoplasmic side was very mobile and showed very high temperature factors (shown in red), presumably because the cytoplasmic side is critically deformed by intermolecular interactions in 3D-crystals (Fig.
2009) Structure of the connexin-26 gap junction channel at 3.
Clinical features of the prevalent form of childhood deafness DFNB1 due to a connexin-26 gene defect implication for genetic conselling.
High prevalence of the W24X mutation in the gene encoding Connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive non-syndromic hearing loss.
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Researchers know that 50%-80% of non-syndromic recessive deafness and 37% of sporadic deaf ness are due to mutations in the connexin-26 gene.
He determined the structures of the mammalian 20S proteasome, a double-shelled Rice dwarf virus and protein complexes involved in intracellular transport, including the Importin-[beta]:SREBP complex, the Exportin5:RanGTP:pre-miRNA complex, the Connexin-26 gap junction channel and vault.