GJB4

GJB4

A gene on chromosome 1q34.3 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB4 mutations are linked to erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment.
References in periodicals archive ?
For the last two decades, several genetic studies were performed to identify the NIHL susceptibility genes and among them various NIHL susceptibility genes have been known to involved in different cellular pathways such as the genes involved in the potassium recycling pathway (Kcnql, Kcnq4, kcnel, Kcnj10, Gjbl, Gjb2, and Gjb4) [51, 52], oxidative stress gene (Sod2, Cat, Gstml, and Pon2) [53, 54], heat shock protein genes (Hsp70) [55], and monogenic deafness genes (Myh14 and Pcdh15) [56].
Little to no expression was observed at any time point in either the biopaper or PET coculture systems for genes gap junction [beta]4 (GJB4), gap junction [beta]6 (GJB6), tight junction protein 3 (TJP3), and claudin 3 (CLDN3) (Table 2).
In order to confirm this for both the biopaper and PET models, GJB4 and GJB6 were included on the array as negative controls.
CON mutations have been identified in both the PSEK and EKV families, including CON 31 (GJB3) and CON 30.3 (GJB4).10
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.