TSFM Human

TSFM plays a pivotal role in the elongation phase of mitochondrial protein synthesis. It functions as a guanine nucleotide exchange factor for the mitochondrial translation elongation factor Tu (TUFM). During the elongation step of mitochondrial protein translation, TSFM catalyzes the exchange of guanine nucleotides on TUFM, facilitating the formation of the TUFM-GTP complex from the TUFM-GDP complex . This exchange is essential for the proper functioning of the mitochondrial ribosome and the synthesis of mitochondrial proteins.

The TSFM protein associates with the TUFM-GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA-TUFM-GTP complex until the GTP hydrolysis stage on the ribosome . This interaction ensures the accuracy and efficiency of mitochondrial protein synthesis.

Mutations in the TSFM gene have been associated with several mitochondrial disorders, including Combined Oxidative Phosphorylation Deficiency 3 and Dilated Cardiomyopathy . These conditions are characterized by impaired mitochondrial function, leading to a range of clinical symptoms such as muscle weakness, developmental delay, and cardiomyopathy.

Recent studies have explored the role of TSFM in various cellular processes. For instance, research has shown that short-term regulation of TSFM levels does not significantly alter amyloidogenesis or mitochondrial function in type-specific cells . This finding suggests that TSFM may not play a direct role in the processing of amyloid precursor protein (APP) associated with Alzheimer’s disease. However, the potential involvement of TSFM in cardiomyopathy and cancer development warrants further investigation .

In the context of recombinant protein production, human recombinant TSFM is utilized in research to study its function and interactions in mitochondrial translation. The availability of recombinant TSFM allows for detailed biochemical and structural analyses, contributing to a better understanding of its role in mitochondrial biology.