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REEP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

REEP1 gene

The REEP1 gene provides instructions for making a protein that supports nerve cell function and structure in the brain and spinal cord.

Normal Function

The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), found in nerve cells (neurons) in the brain and spinal cord. The protein is located within mitochondria (the energy-producing centers of cells) and the endoplasmic reticulum (which helps with protein processing and transport).

REEP1 plays a role in forming the network of tubules that make up the structure of the endoplasmic reticulum, regulating its size and protein-processing capacity. Within the endoplasmic reticulum, REEP1 enhances the activity of G protein-coupled receptors. These receptors are eventually embedded in the cell membrane to relay chemical signals from outside the cell to the interior. The specific function of the REEP1 protein in the mitochondria remains unknown.

Health Conditions Related to Genetic Changes

Distal hereditary motor neuropathy, type V

MedlinePlus Genetics provides information about Distal hereditary motor neuropathy, type V.

Spastic paraplegia type 31

At least 44 mutations in the REEP1 gene have been found to cause spastic paraplegia type 31. This condition is characterized by muscle stiffness (spasticity) and paralysis of the lower limbs (paraplegia) caused by the degeneration of neurons that trigger muscle movement. Most mutations insert or remove small pieces of DNA or alter how the gene's instructions are used, often resulting in a short, nonfunctional protein that is quickly broken down. This leads to a reduction in functional REEP1 protein. While the exact mechanism is unclear, researchers have observed that mitochondria in affected individuals are less able to produce energy, which may contribute to neuron death and progressive movement problems.

Other Names for This Gene

  • C2orf23
  • FLJ13110
  • receptor expression-enhancing protein 1
  • REEP1_HUMAN

Frequently Asked Questions

Parents often notice delayed motor milestones, such as sitting, standing, or walking later than typical peers. In some cases, subtle muscle stiffness or difficulty with fine motor tasks may appear before more obvious symptoms. Early evaluation by a pediatric neurologist can help identify these signs.
REEP1 mutations are inherited in an autosomal dominant pattern, meaning a 50% chance of passing the mutation to each child. If a parent carries a pathogenic variant, family members can be offered genetic testing. Early identification allows for monitoring and early intervention.
definitive diagnosis is made through genetic testing, usually a targeted gene panel or whole exome sequencing that includes REEP1. The test requires a blood or saliva sample and may take 2–4 weeks for results. Genetic counseling is recommended to discuss implications and next steps.
While there is no cure, management focuses on symptom relief. Physical therapy, occupational therapy, and speech therapy can improve mobility and daily function. Medications such as baclofen or tizanidine may reduce spasticity. In some cases, orthopedic interventions or assistive devices are used to support walking.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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