Introduction of GJB1
The gap junction beta-1 protein (GJB1) is a transmembrane protein that is encoded by the GJB1 gene in humans. It is also known as connexin 32 (Cx32). The GJB1 gene is approximately 10 kb in length, consisting of an encoding exon and three non-coding exons. GJB1 is a member of the gap junction connexin protein family, which is responsible for regulating and controlling the transmission of signals on the cell membrane, primarily in the liver and peripheral nervous system. This protein contains four transmembrane domains, combined to form gap junctions.
|Basic Information of GJB1|
|Protein Name||Gap junction beta-1 protein|
|Organism||Homo sapiens (Human)|
Function of GJB1 Membrane Protein
Connexins contain a family of >20 homologous integral membrane proteins that form gap junction channels, providing a pathway for the diffusion of small molecules and ions between adjacent cells. GJB1 is a gap junction and the beta-1 protein is also identified as connexin 32 with 238 amino acids. Connexin-32 is mainly expressed in oligodendrocytes. The GJB1 protein is present in many organs, including the liver, kidney, pancreas and nervous system. In normal conditions, this protein is located in the cell membrane of Schwann cells and oligodendrocytes, which are specialized cells of the nervous system. In general, GJB1 proteins form channels through myelin to internal Schwann cells or oligodendrocytes for efficient transportation and communication. Mutations of the GJB1 gene affect gap junction signaling and trafficking, leading to a hereditary peripheral neuropathy, known as X-linked sacral muscular atrophy. GJB1 acts as a radial diffusion pathway, allowing the transfer and diffusion of nutrients, ions and small molecules between cells.
Fig.1 The structure of GJB1. (Kleopa, 2012)
Application of GJB1 CX32 Membrane Protein in Literature
The study showed that CMT1X's disease treatment strategy corrected trafficking abnormalities in GJB1, which may be ineffective for the mutant group, and it also altered the properties of the GJB1-channel gate.
This article reveals that PBX1 is one of the determinants of the GJB1 promoter target site, preventing further damage associated with gastric cancer.
Studies have shown that GJB1 shows a corresponding reduction in the late fetal development of newborn and adult sheep.
The authors note that in the homomeric channel, the inflexible GJB1G12R n-terminal block ion conduction and this channel block can be alleviated by the addition of wild-type subunits.
These results indicate that GJB1 is critical for cell-cell interactions, thereby promoting hepatocyte maturation and maturation.
GJB1 Preparation Options
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