2024年12月25日 · GJB6 (Gap Junction Protein Beta 6) is a Protein Coding gene. Diseases associated with GJB6 include Clouston Syndrome and Deafness, Autosomal Recessive 1B. Among its related pathways are Gap junction trafficking and Vesicle-mediated transport. An important paralog of this gene is GJB2.

Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene. [5] [6] [7] Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. [8] Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. [9]

The GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between adjoining cells.

This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We selected only families segregating HI, with at least two affected ...

Connexin-30 (GJB6) is a gap junction subunit expressed abundantly in brain and cochlea (summary by Dahl et al., 1996; Lautermann et al., 1998). Dahl et al. (1996) cloned a cDNA of a novel mouse connexin, gap junction protein beta-6 (Gjb6), which they called connexin-30 (Cx30).

2025年1月4日 · gap junction beta-6 protein, connexin 30, ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6, 30kDa. GeneRIFs: Gene References Into Functions. A recurrent mutation of GJB6 in a big Chinese family with …

GJB6 is a prognostic marker in Pancreatic adenocarcinoma Cancer specificity i Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected.

2014年1月30日 · Clinical resource with information about GJB6, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher, and available tests.

This gene has 14 transcripts (splice variants), 284 orthologues, 20 paralogues and is associated with 12 phenotypes. Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues. 间隙连接允许离子和代谢物在相邻细胞的细胞质之间传输。 它们由两个半通道形成，由六个组装成组的连接蛋白组成。 每个连接蛋白有四个跨膜片段，两个细胞外环，两个内部跨膜片段之间形成一个细胞质环，N-和 C-末端都在细胞质中。 间隙连接的特异性由构成半通 …

The GJB2 and GJB6 genes on human chromosome 13q12 and common recessive mutations associated with nonsyndromic recessive deafness. Shown is a map of the region of chromosome 13q12 harboring a cluster of connexin genes, including GJB6 (encoding connexin 30), GJB2 (encoding connexin 26) and GJA3 (encoding connexin 46).