Recombinant Human Protein Mpv17 (MPV17) Protein (His-SUMO)

Name: Recombinant Human Protein Mpv17 (MPV17) Protein (His-SUMO)
Brand: Beta LifeScience
SKU: BLC-10201P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Protein Mpv17 (MPV17) Protein (His-SUMO) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P39210
Target Symbol	MPV17
Synonyms	Glomerulosclerosis; Mpv17; Mpv17 human homolog of glomerulosclerosis and nephrotic syndrome; MpV17 mitochondrial inner membrane protein; MPV17_HUMAN; MTDPS6; Protein Mpv17; SYM1
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-SUMO
Target Protein Sequence	MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
Expression Range	1-176aa
Protein Length	Full Length
Mol. Weight	35.7kDa
Research Area	Metabolism
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis. Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance. May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation.
Subcellular Location	Mitochondrion inner membrane; Multi-pass membrane protein.
Protein Families	Peroxisomal membrane protein PXMP2/4 family
Database References	HGNC: 7224 OMIM: 137960 KEGG: hsa:4358 STRING: 9606.ENSP00000233545 UniGene: Hs.75659
Associated Diseases	Mitochondrial DNA depletion syndrome 6 (MTDPS6)
Tissue Specificity	Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.

Gene Functions References

The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene. PMID: 28673863
New case of Navajo Neurohepatopathy presented + literature review is provided to assist in diagnosis and management of the disease. PMID: 28209105
We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy. PMID: 26437932
MPV17 is a Deltapsim-modulating channel that apparently contributes to mitochondrial homeostasis under different conditions PMID: 25861990
12 pathogenic mutations in mitochondrial DNA depletion syndrome in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. PMID: 23714749
A novel c.191C>G (p.Pro64Arg) MPV17 mutation has been identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. PMID: 23829229
Case Report: functional splicing assay based on the use of minigenes to support that MPV17 c.70 + 5G > A mutation is disease causing. PMID: 20614188
results suggest that M-LPH functions to protect cells from oxidative stress and/or initiation of the mitochondrial apoptotic cascade under stressed conditions PMID: 22306510
eight new patients with seven novel mutations in MPV17 PMID: 20074988
MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice PMID: 16582910
These results show the existence of the human homolog of M-LP and its participation in reactive oxygen species metabolism. PMID: 16631601
Sequencing of the MPV17 gene in six patients with Navajo neurohepatopathy from five families revealed the homozygous R50Q mutation described elsewhere. PMID: 16909392
Mutations in the MPV17 gene should be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure. PMID: 17694548
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. PMID: 18261905
Lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy are associated with mutations in MPV17. PMID: 18329934
study describes clinical, molecular morphological & biochemical features of 3 children with hepatocerebral mitochondrial DNA depletion syndrome secondary to novel MPV17 mutations; data confirm MPV17 mutations are associated with a 2-stage syndrome PMID: 18695062
describes in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS) PMID: 19012992
clinical courses of patients with MPV17 mutations are greatly influenced by viral infections & dietary & pharmaceutical treatments targeting mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients. PMID: 19520594

FAQs

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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.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.