
GJB2 - Wikipedia
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.
GJB2 Gene - GeneCards | CXB2 Protein | CXB2 Antibody
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 …
GJB2 gene - MedlinePlus
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.
Entry - *121011 - GAP JUNCTION PROTEIN, BETA-2; GJB2 - OMIM
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 …
AAV-mediated base editing restores cochlear gap junction in GJB2 ...
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 …
GJB2 Gene: Function, Mutations, and Implications - Genetics
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, …
The pathogenesis of common Gjb2 mutations associated with …
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 …
GJB2-related DFNB1 nonsyndromic hearing loss and deafness
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 …
GJB2/GJB6 (Connexin 26/30) | Molecular Otolaryngology and …
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 …
Human Gene GJB2 (ENST00000382848.5) from GENCODE V47
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 …
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