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).
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