Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation

Abstract excerpt

<h4>Summary</h4> SAMD9 and SAMD9L (SAMD9/9L) are large cytosolic proteins essential for hematopoietic homeostasis and antiviral defense 1–3 . Germline gain-of-function (GoF) mutations in SAMD9/9L cause severe multisystem disorders and predisposition to leukemia, yet the mechanisms that regulate SAMD9/9L activity and how pathogenic mutations disrupt these processes, remain poorly understood. Here, we determine cr...

Topics

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• Binding Sites
• Intracellular Signaling Peptides and Proteins
• Models, Molecular
• Protein Conformation
• Protein Interaction Domains and Motifs
• Stress, Physiological
• Structure-Activity Relationship
• Tumor Suppressor Proteins

Identifiers and source

Literature Corpus work

19dd9e52-b76f-5987-bc62-44312158e413

DOI

10.64898/2026.02.02.703423