Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

2024年12月25日 · GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include Vohwinkel Syndrome and Bart-Pumphrey Syndrome . Among its related pathways are Gap junction trafficking and Vesicle-mediated transport .

The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Learn about this gene and related health conditions.

Cx26 (GJB2) is a gap junction subunit expressed in the developing cortex (summary by Elias et al., 2007). By subtractive hybridization for genes downregulated in mammary tumors, followed by library screening, Lee et al. (1992) cloned CX26 from a …

2025年3月10日 · GJB2-related hearing loss is the most common type of genetic deafness worldwide, yet no drug or GJB2-targeted treatment is available. We previously reported that CX26 regulates the accumulation of gap junction components and the assembly of gap junctions in the cell-cell junctions between cochlear supporting cells and that mutation of GJB2 ...

2023年12月20日 · The GJB2 gene, also known as GJB2 or connexin 26, is a gene that codes for a protein called connexin 26. This protein plays a crucial role in cell communication, particularly in the transmission of signals between cells in the inner ear and the skin.

2023年5月13日 · Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations.

DFNB1 nonsyndromic hearing loss and deafness is an inherited condition in which an individual has mild to severe hearing loss, usually, from birth. It is caused by mutations in GJB2 (which encodes the protein connexin 26) and GJB6 (which encodes connexin 30).

GJB2 -related autosomal recessive non-syndromic hearing loss is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many populations worldwide. This type of hearing loss can also be mild to moderate and is usually stable, though it can progress over time.

2024年8月16日 · FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. SUBUNIT: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).