Recombinant Human GJB1 Protein, N-GST & C-His

Description of Recombinant Human GJB1 Protein, N-GST & C-His

Introduction

Recombinant Human GJB1 Protein, also known as Connexin 32 (Cx32), is a transmembrane protein that plays a crucial role in cell-to-cell communication. It is a member of the gap junction protein family, which forms channels between adjacent cells, allowing the exchange of small molecules and ions. The GJB1 gene is located on the X chromosome and encodes for the GJB1 protein, which is primarily expressed in the nervous system and is essential for the proper functioning of peripheral nerves. In this article, we will discuss the structure, activity, and applications of Recombinant Human GJB1 Protein.

Structure of Recombinant Human GJB1 Protein

The human GJB1 gene consists of two exons and one intron, and it encodes for a protein of 283 amino acids. The protein has four transmembrane domains, two extracellular loops, and one intracellular loop. The extracellular loops are responsible for forming the gap junction channel with adjacent cells, while the intracellular loop is involved in regulating the channel activity. The C-terminus of the protein is located in the cytoplasm and contains phosphorylation sites that regulate the opening and closing of the channel.

Activity of Recombinant Human GJB1 Protein

Recombinant Human GJB1 Protein forms gap junction channels between adjacent cells, allowing the exchange of small molecules and ions, such as metabolites, second messengers, and electrical signals. These channels are essential for the proper functioning of peripheral nerves, as they facilitate the rapid transmission of signals between cells. Mutations in the GJB1 gene can lead to a variety of neurological disorders, including Charcot-Marie-Tooth disease, X-linked Charcot-Marie-Tooth disease, and Pelizaeus-Merzbacher-like disease. These disorders are characterized by a loss of function of the GJB1 protein, leading to impaired gap junction communication and nerve dysfunction.

Applications of Recombinant Human GJB1 Protein

Recombinant Human GJB1 Protein has various applications in the field of neuroscience and medicine. It is commonly used as an antigen in research studies to study the structure and function of gap junction channels. The protein can be produced in large quantities using recombinant DNA technology, making it easily accessible for research purposes.

In addition, Recombinant Human GJB1 Protein has potential therapeutic applications for the treatment of neurological disorders caused by mutations in the GJB1 gene. Gene therapy approaches using recombinant GJB1 protein have shown promising results in preclinical studies, with the potential to restore gap junction communication and improve nerve function in patients with these disorders.

Furthermore, Recombinant Human GJB1 Protein has been used in diagnostic tests for Charcot-Marie-Tooth disease and X-linked Charcot-Marie-Tooth disease. These tests detect mutations in the GJB1 gene and can aid in the early diagnosis of these disorders, allowing for timely treatment and management.

Conclusion

In conclusion, Recombinant Human GJB1 Protein is a transmembrane protein that plays a crucial role in cell-to-cell communication. It forms gap junction channels between adjacent cells, allowing the exchange of small molecules and ions. Mutations in the GJB1 gene can lead to various neurological disorders, and recombinant GJB1 protein has potential therapeutic and diagnostic applications for these disorders. Further research on the structure and function of this protein may lead to the development of new treatments and diagnostic tools for these disorders.