rs2468707545
This variant is located in the REEP1 gene.
▶ClinVar annotation
About REEP1
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]
View all REEP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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