Peripheral Myelin Protein 22 (PMP22) ELISA试剂盒

PMP22 encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. 再加上,我们可以发PMP22 抗体 (104)PMP22 蛋白 (11)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
PMP22 5376 Q01453
PMP22 18858 P16646
PMP22 24660 P25094
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Human Peripheral Myelin Protein 22 (PMP22) interaction partners

  1. In Greek Charcot-Marie-Tooth type 1 patients, 3 pathogenic mutations were found (3.5%); two recently reported micromutations in PMP22 3, and one known point mutation in EGR2

  2. CMT1A patient-derived cultures contain approximately 1.5-fold elevated levels of PMP22 mRNA, exhibit reduced mitotic potential, and display intracellular protein aggregates as compared to cells from unaffected individuals.

  3. These data suggest that PMP22 Del HNPP might not be uncommon at least in the Korean population.

  4. Our data show a significant decrease in Pmp22 transcript expression using allele-specific internal controls. Moreover, the P2 promoter of the Pmp22 gene, which is used in other cell types, is affected, but we find that the Schwann cell-specific P1 promoter is disproportionately more sensitive to loss of the super-enhancer. T

  5. This study supported the notion that missense mutations in PMP22 give rise to a Charcot-Marie-Tooth Disease phenotype, possibly through a toxic gain-of-function mechanism.

  6. We identified that PMP22 not only acts as a marker for gastric CSCs but may also have an essential role in regulating the self-renewal and chemoresistance of gastric cancer. Our findings suggest that PMP22 has clinical value for the prognosis and treatment of chemoresistant gastric cancer

  7. In this Chinese Han population, the frequency of PMP22 gene duplication in those with CMT1 was slightly (50% vs. 70%-80%) less than in Western/Caucasian populations.

  8. PMP22 polymorphism is associated with tuberculosis.

  9. The studies implicating GAS3 protein family (EMP1, EMP2, EMP3 and PMP22) in cancer pathogenesis as well as probe the structural similarities between the family members were highlighted.

  10. A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

  11. Exome sequencing identified MFN2 SNVs in two of the individuals. Neuropathy-associated CNV outside of the PMP22 locus is rare in Charcot-Marie-Tooth (CMT) disease . Nevertheless, there is potential clinical utility in testing for CNVs and exome sequencing in CMT cases negative for the CMT1A duplication.

  12. We discovered that Tead1 and co-activators Yap and Taz are required for Pmp22 expression, as well as for the expression of Egr2 Tead1 directly binds Pmp22 and Egr2 enhancers early in development and Tead1 binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 as a novel regulator of Pmp22 expression during development in concert with Sox10 and Egr2

  13. This study demonstrated We show that blink reflex studies are reliable for identification of inherited demyelinating polyneuropathy (with pmp22 mutation) regardless of severity and can facilitate algorithmic decisions in genetic testing.

  14. Findings suggest that miR-200bc/429 inhibit OS cells proliferation and invasion by targeting PMP22, and function as a tumor suppressor.

  15. PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of hereditary neuropathy with liability to pressure palsies patients.

  16. we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities.

  17. Data suggest that the father has carried the same duplication of the peripheral myelin protein 22 (PMP22) gene but with no detectable symptom may be due to irregular transmission pattern of the mutation.

  18. our data suggest that an alteration of mRNA processing could be a pathogenic mechanism in CMT1A.

  19. These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing Neuromuscular Junction.

  20. Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest PMP22 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.

Mouse (Murine) Peripheral Myelin Protein 22 (PMP22) interaction partners

  1. selective suppression of the Pmp22 mutant allele by non-viral delivery of siRNA alleviates the demyelinating neuropathic phenotypes of Charcot-Marie-Tooth disease in vivo

  2. We discovered that Tead1 and co-activators Yap and Taz are required for Pmp22 expression, as well as for the expression of Egr2 Tead1 directly binds Pmp22 and Egr2 enhancers early in development and Tead1 binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 as a novel regulator of Pmp22 expression during development in concert with Sox10 and Egr2

  3. The basal lamina and PMP22 act in concert to contribute to a resilience and integrity of peripheral nerves at the single fibre level.

  4. A role was identified for PMP22 in the linkage of the actin cytoskeleton with the plasma membrane.

  5. This study demonistrated that Paranodal dysmyelination in peripheral nerves of Trembler mice.

  6. This study showed that a number of ongoing pathogenic mechanisms contribute to the progression of the neuropathy in C22 mice, which initiates with abnormal expression of PMP22.

  7. This study revealed a novel mechanism by which PMP22 deficiency affects nerve conduction not through removal of myelin, but through disruption of myelin junctions

  8. This study showed that mouse PMP22 is palmitoylated at C85 and mutating C85S abolishes PMP22 palmitoylation.

  9. Peripheral myelin protein 22 (PMP22) performs distinct actions on the formation, maturation, degeneration and regeneration of sciatic nerve myelin sheath.

  10. Egr2 and Sox10 activity are directly involved in mediating the developmental induction of Pmp22 expression through an intronic enhancer.

  11. The results of this study demonstrated that a function of Pmp22 is to protect the nerve from mechanical injury.

  12. Part of the PMP22 gene contains the necessary information to mirror the endogenous expression pattern in peripheral nerves during development and regeneration and in mouse models of demyelination due to genetic lesions.

  13. Association of calnexin ex vivo: a basis for "gain-of-function" ER diseases.

  14. Aggresome formation has now been observed with two mutant PMP22s, the Tr- and TrJ-PMP22 when the proteasome is inhibited. two pathways of PMP22 degradation are present.

  15. Mutant pmp22 from less severely affected mutants occurs in large aggregates, while that from more severely affected mutants occurs in a diffuse perinuclear pattern. Pmp22 aggregates may be protective in this form of peripheral neuropathy.

  16. Multiple distinct signaling pathways regulating Pmp22 expression in myelination as well as in neurons converge on distinct segments of the PMP22 promoter region.

  17. Recessive mutations were uniquely distinguished from dominant mutations by both the low potential for aggregation and their trafficking to the cell surface.

  18. Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for early development in Pmp22-deficient mice, supporting a primary function of PMP22 in the regulation of Schwann cell proliferation.

  19. PMP22 is a binding partner in the integrin alpha6beta4/laminin complex and is involved in mediating the interaction of Schwann cells with the extracellular environment.

  20. The beneficial effects of autophagy and chaperones in preventing the accumulation of misfolded PMP22 are additive and provide a potential avenue for therapeutic approaches in hereditary neuropathies linked to PMP22 mutations.

Zebrafish Peripheral Myelin Protein 22 (PMP22) interaction partners

  1. The results of this study indicated that an adequate pmp22 transcription level is necessary for correct myelination of jawed vertebrates.

PMP22 抗原简介

Antigen Summary

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.

Gene names and symbols associated with PMP22

  • peripheral myelin protein 22 (PMP22) 抗体
  • peripheral myelin protein 22 (Pmp22) 抗体
  • peripheral myelin protein 22a (pmp22a) 抗体
  • peripheral myelin protein 22 S homeolog (pmp22.S) 抗体
  • peripheral myelin protein 22 (pmp22) 抗体
  • 22kDa 抗体
  • CMT1A 抗体
  • CMT1E 抗体
  • DSS 抗体
  • Gas-3 抗体
  • HMSNIA 抗体
  • HNPP 抗体
  • MGC69407 抗体
  • MGC80653 抗体
  • PMP22 抗体
  • Sp110 抗体
  • Tr 抗体
  • trembler 抗体
  • wu:fa04d03 抗体
  • wu:fa08d03 抗体

Protein level used designations for PMP22

growth arrest-specific protein 3 , PMP-22 , peripheral myelin protein, 22 kDa , SAG , SR13 myelin protein , schwann cell membrane glycoprotein , peripheral myelin protein 22 , PAS positive glycoprotein , PASII

GENE ID SPECIES
5376 Homo sapiens
18858 Mus musculus
24660 Rattus norvegicus
334817 Danio rerio
417327 Gallus gallus
446837 Xenopus laevis
479509 Canis lupus familiaris
534497 Bos taurus
594946 Xenopus (Silurana) tropicalis
693527 Macaca mulatta
744977 Pan troglodytes
100034146 Equus caballus
100172535 Pongo abelii
100302348 Ovis aries
100723804 Cavia porcellus
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