CIBAR1: A Promising Drug Target and Biomarker for Wilson's Disease

Target Name: CIBAR1

NCBI ID: G137392

CIBAR1

CIBAR1: A Promising Drug Target and Biomarker for Wilson's Disease

Introduction

Wilson's disease is a genetic disorder caused by a deficiency of dystrophin, a protein that helps keep muscle cells intact. The disorder results in progressive muscle weakness, wasting, and mobility problems, which can lead to a variety of health complications, including heart failure , liver failure, and increased risk of falls and accidents. Currently, there are no FDA-approved treatments for Wilson's disease. CIBAR1, a protein found in the FAM92A gene, may provide a new target for drug development and serve as a biomarker for the disease.

CIBAR1: Structure and Function

CIBAR1 is a 21-kDa protein that is expressed in various tissues, including muscle, heart, and brain. It is a member of the FAM92A gene family, which encodes a family of proteins involved in various cellular processes, including cytoskeletal organization, intracellular signaling , and tissue repair. CIBAR1 shares 95% identity with the human FAM92A gene, and its amino acid sequence is highly conserved across species, suggesting a conserved function.

Expression and Defective Behavior

CIBAR1 is highly expressed in muscle tissue, where it is involved in the regulation of muscle cell structure and function. It interacts with several other proteins, including the myosin protein, which is responsible for generating force during muscle contractions. By modulating myosin function, CIBAR1 may contribute to muscle weakness and dysfunction.

CIBAR1 deficiency has been observed in various animal models of Wilson's disease, including muscle weakness, atrophy, and progressive muscle wasting. In human subjects, CIBAR1 mutations have been identified in individuals with Wilson's disease, and these mutations have been shown to alter protein structure and function.

Drug Target Potential

The identification of CIBAR1 as a potential drug target is based on its unique structure and function, as well as its involvement in the development of Wilson's disease. Several small molecules have been shown to interact with CIBAR1 and modulate its activity, suggesting that they may be effective in treating Wilson's disease.

One approach to targeting CIBAR1 is to use small molecules that can modulate the activity of myosin, as CIBAR1 is known to interact with myosin in the regulation of muscle function. One such compound, known as C3, has been shown to inhibit the activity of CIBAR1 and myosin, leading to muscle relaxation and improved function in animal models of Wilson's disease.

Another approach is to target CIBAR1 directly with small molecules that can modulate its expression or function. For instance, a drug known as SLC4082 has been shown to enhance the expression of CIBAR1 in muscle cells, leading to increased protein levels and improved muscle function.

Biomarker Potential

CIBAR1 may also serve as a biomarker for Wilson's disease, as its expression and function are affected by the disorder. The analysis of CIBAR1 expression and function in muscle tissue from individuals with Wilson's disease may provide valuable information about the disease and the effectiveness of potential treatments.

Conclusion

CIBAR1 is a promising drug target and biomarker for Wilson's disease. Its unique structure and function, as well as its involvement in the regulation of myosin, make it an attractive target for small molecules that can modulate its activity. Further research is needed to determine the efficacy of CIBAR1 as a treatment for Wilson's disease and to develop biomarkers for the disorder.

Protein Name: CBY1 Interacting BAR Domain Containing 1

Functions: Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis (PubMed:27528616, PubMed:30395363). In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616, PubMed:30395363). Plays an important role in the mitochondrial function and is essential for maintaining mitochondrial morphology and inner membrane ultrastructure (PubMed:30404948). In vitro, can generate membrane curvature through preferential interaction with negatively charged phospholipids such as phosphatidylinositol 4,5-bisphosphate and cardiolipin and hence orchestrate cristae shape (PubMed:30404948)

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•   general information;
•   protein structure and compound binding;
•   protein biological mechanisms;
•   its importance;
•   the target screening and validation;
•   expression level;
•   disease relevance;
•   drug resistance;
•   related combination drugs;
•   pharmacochemistry experiments;
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•   advantages and risks of development, etc.
The report is helpful for project application, drug molecule design, research progress updates, publication of research papers, patent applications, etc. If you are interested to get a full version of this report, please feel free to contact us at BD@silexon.ai

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