STX11

STX11 is a gene that provides instructions for making a protein called syntaxin 11. This protein is found in nerve cells and is important for the proper functioning of neurotransmitter release. Neurotransmitters are chemical messengers that allow nerve cells to communicate with each other. Syntaxin 11 is involved in the process of exocytosis, where vesicles containing neurotransmitters fuse with the cell membrane to release their contents.

Mutations in the STX11 gene can lead to a rare genetic disorder called familial hemophagocytic lymphohistiocytosis type 5 (FHL5). FHL5 is a severe condition that affects the immune system. It causes the body's immune cells, particularly lymphocytes and macrophages, to become overactive and attack the body's own tissues and organs. This leads to widespread inflammation and damage, which can be life-threatening if not treated. Symptoms of FHL5 can include fever, enlarged spleen and liver, low blood cell counts, and neurological problems. The exact mechanism by which STX11 mutations cause FHL5 is still being researched, but it is believed to impair the cytotoxic function of natural killer (NK) cells and T cells, which are crucial for controlling infections and eliminating abnormal cells. Treatment for FHL5 typically involves immunosuppressive therapy and sometimes stem cell transplantation.