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Am J Hum Genet. 2006 Aug;79(2):365-9. Epub 2006 May 26.

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

Author information

1
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. szuchner@chg.duhs.duke.edu

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.

PMID:
16826527
PMCID:
PMC1559498
DOI:
10.1086/505361
[Indexed for MEDLINE]
Free PMC Article
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