REEP1
# 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).
