REEP1
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Template:Short description Template:Infobox gene Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.[1][2][3]
Clinical significance
Mutations in REEP1 are known to cause the following conditions:[4]
- Spastic paraplegia 31, autosomal dominant (SPG31);
- Neuronopathy, distal hereditary motor, 5B (HMN5B);
- Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).
References
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Further reading
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