1998年6月18日 · GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limited episodes of …

Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32), is a transmembrane protein that in humans is encoded by the GJB1 gene.

2024年12月25日 · GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and …

Results show that the GJB1 (connexin 32; Cx32) mutants R75P, R75Q and R75W display variable structural conformation and dynamic behavior compared to the native protein. Point …

2025年2月8日 · Clinical resource with information about GJB1, Charcot-Marie-Tooth disease X-linked dominant 1, and available tests. There are links to practice guidelines and authoritative …

间隙连接蛋白是跨膜蛋白，它们组装形成间隙连接通道，促进细胞间离子和小分子的转移。 根据核苷酸和氨基酸水平的序列相似性，间隙连接蛋白分为两类，α和β。 该基因的突变会导致 X 连 …

The GJB1 gene provides instructions for making a protein called connexin-32 (also known as gap junction beta 1). This protein is a member of the gap junction connexin family, which plays a …

2019年2月28日 · gjb1 基因突变引 起的 cmtxd 型发病率居 于 第 二 位， 占 所有 cmt 患 者 的 7% ～[1]。 本研究对一 CMTXD 家11% ，仅次于 CMT1A 型系进行了临床分析、电生理检查和系 …

Through analysis of somatic cell hybrids by PCR and hybridization, Fishman et al. (1991) assigned the GJA1 gene (121014) to chromosome 6 and the GJB1 gene to Xp11-q22. …

2022年9月25日 · Using targeted exome-sequencing, we identified two known GJB1 mutations (p.Y157H and p.R220Pfs * 23) and two novel pathogenic variants in GJB1 (p.F31S and …