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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 (69) 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
REEP1 co-immunoprecipitates with seipin (show BSCL2 Proteins) in cells. This strengthens the link between alterations in reticulum morphogenesis and lipid abnormalities, with important pathogenic implications for the most common forms of Hereditary spastic paraplegias.
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