Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
via MyGene.info
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).
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).