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

Sep 28, 1998 · GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non …

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.

Dec 25, 2024 · GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include Vohwinkel Syndrome and Bart-Pumphrey Syndrome . Among its …

Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of …

GJB2 mutations are highly prevalent around the world. The multiple predominant mutations present in different populations attest to the importance of this gene for normal cochlear …

Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic …

Dec 20, 2023 · 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 …

Mar 10, 2025 · 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 …

Mar 27, 2023 · The GJB2 gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. GJB2 pathogenic missense …