anti-Receptor Accessory Protein 1 (REEP1) Antibodies

Human Receptor Accessory Protein 1 (REEP1) interaction partners

1. REEP1 variants cause polyneuropathy in SPG31.

2. Pathology of spastic paraplegia type 31 may contain dosage effect of REEP1 transcripts.

3. Study identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic paraplegia (HSP).

4. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients

5. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.

6. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.

7. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.

8. Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.

9. REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.

10. A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.

11. Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1

12. Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.

13. previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia

14. Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.

15. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.

16. RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression.

17. REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

18. Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients.

19. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations

20. Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1.

Mouse (Murine) Receptor Accessory Protein 1 (REEP1) interaction partners

1. REEP1 co-immunoprecipitates with seipin 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.

2. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.