Article Document Academic Article Information Content Entity Continuant Continuant Journal Article Entity Entity Generically Dependent Continuant 2025-05-11T14:06:19 RDF description of Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 - http://repository.healthpartners.com/individual/document-rn18748 14236 *Mutation Molecular Sequence Data American Journal of Human Genetics Haplorhini Spastic Paraplegia, Hereditary/*genetics/metabolism 2 Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 Animals 2022-02-21T22:48:57.408-06:00 <p>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.<p> Membrane Transport Proteins/*genetics/metabolism 10.1086/505361 public Rats 23052 Mitochondrial Proteins/*genetics/metabolism document-rn18748 79