Exocystohjattu
Exocystohjattu is a rare genetic disorder characterized by the absence of the exocyst complex, a group of proteins involved in the regulation of vesicle trafficking and fusion. The exocyst complex is essential for the proper functioning of various cellular processes, including endocytosis, exocytosis, and cell polarity. The absence of this complex leads to a range of symptoms, including developmental delays, intellectual disability, and movement disorders.
The disorder is caused by mutations in the EXOC genes, which encode the subunits of the exocyst
There is currently no cure for exocystohjattu, and treatment is primarily supportive. Management focuses on addressing
Exocystohjattu is a rare condition, with an estimated prevalence of less than 1 in 100,000 individuals. It