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 ;
Neuronopathy, distal hereditary motor, 5B ;
Distal spinal muscular atrophy, autosomal recessive, 6.