rs377637314

This is a regulatory region variant variant in the REEP1 gene.

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ClinVar annotation

Pathogenic★★★☆
12 submitters6 publications

Hereditary spastic paraplegia; Hereditary spastic paraplegia 31; Inborn genetic diseases; Neuronopathy, distal hereditary motor, type 5B; REEP1-related disorder

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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