TBCEL acts as a regulator of tubulin stability, ensuring that tubulin proteins are correctly folded and functional within the cell. This process is essential for maintaining the integrity and dynamics of the microtubule network, which is critical for various cellular processes such as cell division, intracellular transport, and maintaining cell shape .
Mutations or deficiencies in TBCEL have been linked to several disorders. For instance, TBCEL is associated with nonsyndromic congenital nail disorders, such as Nail Disorder, Nonsyndromic Congenital, 5 and 6 . Additionally, TBCEL deficiency has been implicated in vascular dysfunction due to increased endoplasmic reticulum stress, leading to vascular smooth muscle cell proliferation and vascular remodeling .
Recent studies have highlighted the therapeutic potential of targeting TBCEL in various diseases. For example, TBCEL deficiency has been shown to promote vascular dysfunction by increasing endoplasmic reticulum stress, which can be attenuated by the endoplasmic reticulum stress modulator tauroursodeoxycholic acid . This suggests that modulating TBCEL activity could be a promising strategy for treating vascular diseases.
Mouse anti-human TBCEL antibodies are commonly used in research to study the expression and function of TBCEL in human cells. These antibodies are valuable tools for investigating the role of TBCEL in various cellular processes and disease states. They can be used in techniques such as Western blotting, immunofluorescence, and immunohistochemistry to detect TBCEL protein levels and localization in human tissues.