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. Learn about this gene and related health conditions.

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 ...

The GJB6 gene is associated with autosomal dominant Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416).

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 …

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).

2014年1月30日 · Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides. Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.

2002年1月24日 · We identified a 342-kb deletion in the gene encoding connexin 30 (GJB6), a protein that is reported to be expressed with connexin 26 in the inner ear. The deletion extended distally to GJB2,...

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).