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

1998年9月28日 · 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-progressive sensorineural hearing loss in many world populations. GJB2-AR NSHL can also be mild to moderate and is usually not progressive; however, there are exceptions.

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.

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 .

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 patients with autosomal recessive nonsyndromic hearing loss.

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 function and suggests an evolutionary heterozygote advantage.

Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures ...

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.

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3月27日 · 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 variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined with skin diseases.