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

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.
AuthorsStephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A Nance, Perry C Gaskell, Jeffery M Vance, Allison E Ashley-Koch, Margaret A Pericak-Vance
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 79 Issue 2 Pg. 365-9 (Aug 2006) ISSN: 0002-9297 [Print] United States
PMID16826527 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References
  • Membrane Transport Proteins
  • Mitochondrial Proteins
  • REEP1 protein, human
Topics
  • Animals
  • Haplorhini
  • Humans
  • Membrane Transport Proteins (genetics, metabolism)
  • Mitochondrial Proteins (genetics, metabolism)
  • Molecular Sequence Data
  • Mutation
  • Rats
  • Spastic Paraplegia, Hereditary (genetics, metabolism)

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