title: REEP1
text: # REEP1
  
  Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
  
  ## Clinical significance
  
  Mutations in REEP1 are known to cause the following conditions:
  
  * Spastic paraplegia 31, autosomal dominant (SPG31);
  * Neuronopathy, distal hereditary motor, 5B (HMN5B);
  * Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).
  