ISSN: 0974-276X
Department of Anatomical Sciences and Molecular Medicine, Alabama College of Osteopathic Medicine, Dothan, USA
Research Article
D176A Variant in the LKB1/STK11 Tumor Suppressor Protein: Potential Pathogenic Implications
Author(s): Josnel Cid*
This study endeavors to evaluate the potential pathogenic or benign consequences of the Liver Kinase B1 (LKB1) protein mutation, Mitogen Activated Protein Kinase p38alpha (D176A), which is categorized as a Variant of Unknown Significance (VUS). LKB1 serves as a widely recognized tumor suppressor protein with multifaceted involvement in cellular processes such as metabolism regulation and apoptosis induction. It forms a heterotrimeric complex that becomes activated through interaction with STe20-Related Adaptor (STRAD) and Mouse protein 25 (MO25). Peutz-Jeghers syndrome, an autosomal dominant hereditary disorder, is associated with mutations in the LKB1 gene. Existing evidence suggests a high likelihood of deleterious effects attributed to the amino acid substitution D176A, as inferred from the outcomes of nine out of ten predicti.. View More»
DOI:
10.35248/0974-276X.24.17.670