RANGRF Human

RANGRF is involved in the regulation of the RAN GTPase cycle. RAN is a small GTP-binding protein that belongs to the RAS superfamily and is essential for the translocation of RNA and proteins through the nuclear pore complex . The primary function of RANGRF is to promote the release of guanine nucleotides from RAN, thereby facilitating the exchange of GDP for GTP . This process is critical for maintaining the proper function of RAN in nuclear transport, mitotic spindle assembly, and other cellular activities.

RANGRF inhibits the binding of new GTP by preventing the interaction of RAN with its guanine nucleotide exchange factor, RCC1 . This regulation ensures that the levels of GTP-bound RAN are controlled within the nucleus, which is vital for the proper functioning of RAN-dependent processes.

Mutations or dysregulation of the RANGRF gene have been associated with several cardiac conditions, including Brugada Syndrome . This syndrome is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. RANGRF has been shown to regulate the expression and function of the Nav1.5 cardiac sodium channel, which is crucial for cardiac conduction . Therefore, alterations in RANGRF can lead to disruptions in cardiac rhythm and function.

The study of RANGRF and its interactions with RAN and other proteins has significant implications for understanding cellular transport mechanisms and the regulation of the cell cycle. Human recombinant RANGRF is used in research to investigate its role in these processes and to develop potential therapeutic interventions for related diseases.