Recombinant Human MPZ Protein (C-6His)

Name: Recombinant Human MPZ Protein (C-6His)
Brand: Beta LifeScience
SKU: BL-0622NP
Availability: InStock

BL-0622NP: Greater than 95% as determined by reducing SDS-PAGE. (QC verified)

Collections: Other recombinant proteins, Recombinant proteins

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Product Overview

Description	Recombinant Human Myelin Protein P0 is produced by our Mammalian expression system and the target gene encoding Ile30-Arg153 is expressed with a 6His tag at the C-terminus.
Accession	P25189
Synonym	Myelin Protein P0; Myelin Peripheral Protein; MPP; Myelin Protein Zero; MPZ
Gene Background	Myelin Protein P0 (MPZ) is a single-pass type I membrane glycoprotein which belongs to the myelin P0 protein family. MPZ contains one Ig-like V-type (immunoglobulin-like) domain, absent in the central nervous system. MPZ is a major component of the myelin sheath in peripheral nerves. It is postulated that MPZ is a structural element in the formation and stabilisation of peripheral nerve myelin, holding its characteristic coil structure together by the interaction of its positively-charged domain with acidic lipids in the cytoplasmic face of the opposed bilayer, and by interaction between hydrophobic globular of adjacent extracellular domains. Defects in MPZ associated with Charcot-Marie-Tooth disease and Dejerine-Sottas disease.
Molecular Mass	15.2 KDa
Apmol Mass	14-17 KDa, reducing conditions
Formulation	Lyophilized from a 0.2 μm filtered solution of PBS, pH 7.4.
Endotoxin	Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test.
Purity	Greater than 95% as determined by reducing SDS-PAGE. (QC verified)
Biological Activity	Not tested
Reconstitution	Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
Storage	Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months.
Shipping	The product is shipped at ambient temperature. Upon receipt, store it immediately at the temperature listed below.
Usage	For Research Use Only

Target Details

Target Function	Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.; [Isoform L-MPZ]: Myelin membrane; Single-pass type I membrane protein.
Protein Families	Myelin P0 protein family
Database References	HGNC: 7225 OMIM: 103100 KEGG: hsa:4359 STRING: 9606.ENSP00000431538 UniGene: Hs.591486
Associated Diseases	Charcot-Marie-Tooth disease 1B (CMT1B); Charcot-Marie-Tooth disease 2I (CMT2I); Charcot-Marie-Tooth disease 2J (CMT2J); Adie pupil (ADIEP); Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID); Dejerine-Sottas syndrome (DSS); Neuropathy, congenital hypomyelinating or amyelinating (CHN); Roussy-Levy syndrome (ROULS)
Tissue Specificity	Found only in peripheral nervous system Schwann cells.

Gene Functions References

The novel MPZ base-pair substitution in the family is associated with inherited distal demyelinating neuropathy and should be reclassified as pathogenic for Charcot-Marie-Tooth. PMID: 29465609
In this Chinese Han population six novel Charcot-Marie-Tooth disease-associated gene mutations of MPZ (c.440T>C) was discovered. PMID: 27862672
The obtained results depict that the protein with I30T mutation had variable structural conformation and dynamic behavior than native and mutant I30M of MPZ protein. PMID: 26135405
interaction with neurofascins impaired by mutations D6Y, D32G, and H52Y responsible for late onset forms of the human disease PMID: 26406915
Genotype of MPZ mutations and phenotype of Charcot Marie Tooth Disease are correlated. PMID: 26310628
2 heterozygous missense mutations were identified among 38 Italian CMT2 patients. PMID: 24819634
P0 protein in serum may be an early effective biomarker for peripheral nerve neuropathy PMID: 24762602
As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. PMID: 25720167
This study demonistrated that The mutation c.419C>G of MPZ exhibited relatively late onset and slowly progressive CMT1 phenotype. PMID: 24028194
This study showed that mutation of MPZ in patient with Charcot-Marie-Tooth disease. PMID: 23743332
this mutation is especially important because it implicates the significance of the immunoglobulin-like structure of MPZ protein PMID: 22633464
MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy PMID: 23279346
The p.Arg106Cys allele in MPZ causes late-onset predominantly axonal sensory and motor neuropathy. PMID: 22222859
report of 2 siblings who presented with early onset severe Charcot-Marie-Tooth disease; a novel heterozygous C to T base substitution at neucleotide position 199 (c.199C>T) was identified in exon 2 of MPZ resulting in substitution of arginine for cysteine at codon 67 (p.Arg67Cys) PMID: 23197742
Myelin protein zero is a key structural component of compact myelin, and over 100 mutations in this protein have been reported, which can give rise to neuropathies with either axonal, demyelinating, or other features encompassing a range of severity. PMID: 22704856
Patients with CMT1B caused by Ser63del MPZ have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ PMID: 22734905
Thiss study demonistrated that two affected member of the same family with the same genotype had an 8-base pair deletion, c.160_167delTCCCGGGT in MPZ exon 2. PMID: 22622165
Myelin protein P0 is a major Aire-regulated peripheral nervous system antigen demonstrating defective tolerance to P0 in both Aire-deficient mice and humans. PMID: 22490868
L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough. PMID: 22457349
The overall frequency of MPZ mutation was 0.58% in a Greek population of Charcot-Marie-Tooth type 1. PMID: 22243284
The new allelic variants of hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene are described. PMID: 22433810
This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical Charcot Marie Tooth 1b phenotype PMID: 22018721
The crystal structure of the extracellular domain of human MPZ fused with maltose binding protein PMID: 21971831
MPZ plays an important role in a family with 6 affected members in 3 consecutive generations, presenting with motor and sensory demyelinating polyneuropathy. PMID: 22275255
Charcot-Marie-Tooth disease has been described in a large Norwegian family caused by a copy number variation in myelin protein zero. PMID: 21787890
The identified mutation in MPZ may be the underlying cause of Charcot-Marie-Tooth disease in this family. PMID: 21503568
we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the myelin protein zero gene PMID: 21107784
a rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo PMID: 21179557
five patients with four novel MPZ mutations were identified by molecular genetic testing PMID: 20556410
Cells expressing mutant P(0), as compared with those expressing wild-type P(0), demonstrated variable degrees of reduction in the cell adhesiveness PMID: 20461396
two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser PMID: 20621479
Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III, and mild phenotype CMT1B presented with only decreased or absent reflexes, foot deformities and mild or absent lower limb atrophies PMID: 20456450
A novel frameshift mutation affecting the transmembrane domain (Leu144fs)in a patient with Charcot-Marie-Tooth disease presenting as with late-onset, remitting neurologic symptoms. PMID: 20516806
Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene. PMID: 20544920
The results of this study concluded that ARG98HIS MPZ mutation may cause hereditary and relatively mild and asymmetric demyelinating sensorimotor polyneuropathy PMID: 20215982
The index patient of this family with unusual Charcot-Marie-Tooth phenotype is found to have a missense mutation within the intracellular domain of myelin protein zero. PMID: 19882637
mutations in MPZ may have a role in Charcot-Marie-Tooth disease type 1B [case report] PMID: 19475438
Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. This report adds new data concerning the clinical presentations of MPZ mutations. PMID: 19906531
novel mutation in vocal cord paralysis PMID: 19950375
Findings suggest that the clinical features associated with MPZ mutations depend partly on the nature of amino acid change. PMID: 19293842
Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds. PMID: 19259128
SSCP analysis for this gene in Croatian patients PMID: 12211648
We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations PMID: 12911457
DNA sequencing analysis shows the Asn131Lys mutation in the myelin protein zero gene in three members of an affected family. PMID: 12940837
This study demonstrates that autonomic disturbances may be one of the major clinical signs associated with CMT secondary to MPZ gene mutation in codon 124(thr124met mutation). PMID: 12948789
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. PMID: 15036333
Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported PMID: 15050444
MPZ gene screening should be performed for wide phenotype spectrum of Charcot-Marie-Tooth disease. PMID: 15094849
Chronic cough was associated with a Thr124 Met mutation. MPZ must be critical for maintenance of axonal function in addition to its role in myelin. All MPZ mutations associated with tonic pupils affect the same region of the extracellular domain. PMID: 15159512
A novel Thr124Lys mutation in the MPZ gene is associated with congenital neuropathy with hypomyelination. PMID: 15184631

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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