Publication: The Cdc42 Cys81Tyr Mutation: Impact On Guanosine Triphosphatase (Gtpase) Activation Status And Its Cellular Functions
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Date
2025-08
Authors
Chong, Chien Fung
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Abstract
Mutations in small Rho guanine triphosphatase (GTPase) have been increasingly associated with various diseases. One of the members is Cdc42, a key regulator of cellular signalling, cytoskeletal organization, and immune responses by cycling between an active GTP-bound and an inactive GDP-bound states. A novel cysteine-to-tyrosine substitution at residue 81 (C81Y) within the β4 segment of Cdc42 has been identified in patients with concurrent primary immunodeficiency (PID) and Hodgkin's lymphoma. Notably, emerging evidence suggests that this mutation disrupts Cdc42 structure-function relationship, potentially impairing immune signalling, altering cytokine secretion profiles, and driving oncogenesis. Yet, the pathogenic roles of Cdc42 C81Y remains poorly understood. This study investigates its structural and biochemical impact, hypothesizing that it disrupts GDP/GTP cycling, post-translational modification, and downstream signalling, contributing to disease pathogenesis.
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Cdc42 Cys81Tyr Mutation , Impact On Guanosine Triphosphatase (Gtpase) Activation Status And Its Cellular Functions