Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Stephan Züchner, Gaofeng Wang, Khanh Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

154 Scopus citations

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

Original languageEnglish (US)
Pages (from-to)365-369
Number of pages5
JournalAmerican journal of human genetics
Volume79
Issue number2
DOIs
StatePublished - Aug 2006
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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