2024年12月25日 · GJB3 (Gap Junction Protein Beta 3) is a Protein Coding gene. Diseases associated with GJB3 include Erythrokeratodermia Variabilis Et Progressiva 1 and Deafness, Autosomal Dominant 2B. Among its related pathways are Gap junction trafficking and Developmental Cell Lineages.

gjb3基因是由我国夏家辉院士克隆，编码的cx31缝隙连接蛋白也是维持内耳正常听觉的关键因素。 Cx31缝隙连接蛋白 功能受损会引起钾离子再循环障碍，影响内耳毛细胞的功能，导致听力下降。

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene. [5][6][7] This gene is a member of the connexin gene family.

2024年12月6日 · In this study, we used TCGA data to identify genetic and epigenetic changes associated with Gap junction proteins. The analysis identified GJB3 as a key gene with differential methylation and expression patterns, with notable overexpression in COAD and LUAD, correlating significantly with patient survival outcomes.

Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern. GJB3 gene mutation was not involved with hearing loss in Shanghai area.

GJB2基因是导致非综合征遗传性耳聋最常见的基因，其突变所致的遗传性耳聋占散发患者的30%～40% [5]。 该基因，定位于13q11～q12染色体上，编码一种由6个单体组成的缝隙连接蛋白 (connexin)26 (Cx26) [6]。 Cx26蛋白广泛分布于耳蜗支持细胞和结缔组织，构成细胞间缝隙连接通道，参与转运毛细胞至血管纹的钾离子，维持耳蜗内淋巴电位，在信息传递和物质交换中发挥重要作用。 如果GJB2基因编码区域发生突变，则会影响缝隙连接蛋白所组成通道的正常功能，导 …

2023年3月23日 · gjb3基因致病的耳聋一般表现为进行性、迟发性，临床表现为高频听力受损的进行性语后聋，起初表现为高频听力损失，逐渐累及全频，发病年龄多在10~20岁。

The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells.

目前耳聋基因筛查产品众多，覆盖基因范围和致病变异位点各有不同，对常见耳聋基因（GJB2、SLC26A4、线粒体基因）筛查位点的选择多数较统一；但各产品依据的数据库不同，对非常见耳聋基因致病变异位点的选择存在较大差异。 原则上，耳聋基因筛查位点应选择具有明确耳聋致病性的变异，优先选择基于大规模耳聋人群分子流行病学调查确定的、等位基因频率高的致病变异 [ 2， 10, 11, 12, 13, 14, 15, 16 ]。

编码的蛋白质是间隙连接的一个组成部分，间隙连接由细胞间通道阵列组成，这些通道为低分子量材料从细胞到细胞的扩散提供了途径。 该基因的突变可导致非综合征性耳聋或多变性红角化病 (一种皮肤病) 。 可变剪接导致编码相同蛋白质的多个转录变体。 [RefSeq 提供，2008 年 7 月] This gene is a member of the connexin gene family.