RETREG1 gene
The RETREG1 gene provides instructions for a protein involved in autophagy, a process essential for maintaining cellular health in sensory and autonomic nerve cells.
Normal Function
The RETREG1 gene provides instructions for making a protein involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down proteins when they are no longer needed. The RETREG1 protein specifically helps direct the autophagy of the endoplasmic reticulum, a structure important in protein processing and transport. Additionally, the protein appears to be important in the organization of the Golgi apparatus, which distributes proteins within the cell.
The RETREG1 protein is found in sensory and autonomic nerve cells (neurons). Sensory neurons transmit pain, touch, and temperature sensations, while autonomic neurons help control involuntary functions such as heart rate and blood pressure.
Health Conditions Related to Genetic Changes
Hereditary sensory and autonomic neuropathy type II
Mutations in the RETREG1 gene are responsible for a type of hereditary sensory and autonomic neuropathy type II (HSAN2) called HSAN2B. People with this condition lose the ability to feel pain or sense hot and cold.
- Mechanism: Mutations may lead to an abnormally short and nonfunctional protein.
- Impact: The lack of functioning RETREG1 protein impairs the autophagy of the endoplasmic reticulum and alters the structure of the Golgi apparatus.
- Consequence: Researchers suspect that the inability to break down parts of the endoplasmic reticulum leads to an accumulation of structures and proteins, resulting in cell death and the loss of sensory and autonomic neurons.