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REEP1 encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Additionally we are shipping Receptor Accessory Protein 1 Antibodies (50) and many more products for this protein.
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This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
Expression of the REEP1/REEP2 (show REEP2 Proteins) subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.
A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.
Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
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.
receptor expression-enhancing protein 1
, receptor expression enhancing protein 1