reticulophagy regulator 1
The RETREG1 gene provides instructions for making a protein important for the survival of sensory and autonomic nerve cells (neurons). Sensory neurons transmit pain, touch, and temperature sensations. Autonomic neurons help control involuntary functions of the body such as heart rate and blood pressure. Within neurons, the RETREG1 protein is found in a structure called the Golgi apparatus, which is important for distribution of proteins to the cell. However, the function of the RETREG1 protein is not well understood. Studies have shown that neurons in which the RETREG1 protein is absent die by a process of self-destruction called apoptosis.
Mutations in the RETREG1 gene are responsible for one type of hereditary sensory and autonomic neuropathy type II (HSAN2) called HSAN2B. People with HSAN2B lose the ability to feel pain or sense hot and cold. The RETREG1 gene mutations may lead to an abnormally short and nonfunctional protein. The lack of RETREG1 protein causes neurons to undergo apoptosis, which reduces the overall number of sensory and autonomic neurons. The loss of neurons results in the signs and symptoms of HSAN2B.
- FAM134B protein
- FAM134B protein isoform 1
- FAM134B protein isoform 2
- family with sequence similarity 134 member B
- family with sequence similarity 134, member B