In the term "sep 11 gene," the component "sep 11" functions as a proper adjective or a noun adjunct, modifying the noun "gene." The entire phrase constitutes a noun phrase that refers to a specific gene, formally known as SEPT11. This gene provides the genetic instructions for producing a protein called septin-11.
The SEPT11 gene is part of the septin family, which encodes a class of GTP-binding proteins. These proteins are fundamental components of the cytoskeleton and act as scaffolds by assembling into filaments and ring-like structures within the cell. Septins play a critical role in various essential cellular processes, including cytokinesis (the final stage of cell division), vesicle trafficking, and maintaining cell polarity and morphology. They help to organize cellular compartments and recruit other proteins to specific locations, ensuring proper cellular function.
Clinically, mutations in the SEPT11 gene are a primary cause of hereditary neuralgic amyotrophy (HNA), also known as Parsonage-Turner syndrome. This rare autosomal dominant disorder is characterized by recurrent episodes of severe nerve pain, muscle weakness, and atrophy, typically affecting the brachial plexus. The link between SEPT11 mutations and HNA highlights the gene's critical role in the normal development and function of the peripheral nervous system.
