rs778184639

This variant is located in the REEP1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; REEP1-related disorder; Hereditary spastic paraplegia 31;Neuronopathy, distal hereditary motor, type 5B;Spinal muscular atrophy, distal, autosomal recessive, 6

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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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