Recombinant Human Probable E3 Ubiquitin-Protein Ligase Makorin-3 (MKRN3) Protein (His&Myc)

Name: Recombinant Human Probable E3 Ubiquitin-Protein Ligase Makorin-3 (MKRN3) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-08880P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Probable E3 Ubiquitin-Protein Ligase Makorin-3 (MKRN3) Protein (His&Myc) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q13064
Target Symbol	MKRN3
Synonyms	D15S9; Makorin ring finger protein 3; Mkrn3; MKRN3_HUMAN; Probable E3 ubiquitin-protein ligase makorin-3; RING finger protein 63; RNF63; ZFP127; Zinc finger protein 127; ZNF127
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAPDSALPHAARGWAPFPVAPVPAHLRRGGLRPAPASGGGAWPSPLPSRSSGIWTKQIICRYYIHGQCKEGENCRYSHDLSGRKMATEGGVSPPGASAGGGPSTAAHIEPPTQEVAEAPPAASSLSLPVIGSAAERGFFEAERDNADRGAAGGAGVESWADAIEFVPGQPYRGRWVASAPEAPLQSSETERKQMAVGSGLRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHPMDAAQREEHMRACIEAHEKDMELSFAVQRGMDKVCGICMEVVYEKANPNDRRFGILSNCNHSFCIRCIRRWRSARQFENRIVKSCPQCRVTSELVIPSEFWVEEEEEKQKLIQQYKEAMSNKACRYFAEGRGNCPFGDTCFYKHEYPEGWGDEPPGPGGGSFSAYWHQLVEPVRMGEGNMLYKSIKKELVVLRLASLLFKRFLSLRDELPFSEDQWDLLHYELEEYFNLIL
Expression Range	1-507aa
Protein Length	Full Length
Mol. Weight	60.6kDa
Research Area	Others
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

E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

Database References

HGNC: 7114

OMIM: 603856

KEGG: hsa:7681

STRING: 9606.ENSP00000313881

UniGene: PMID: 28299573

MKRN3 23566445 C/T polymorphism was associated with precocious puberty. PMID: 28988223

The prevalence of MKRN3 mutations in our cohort of girls with central precocious puberty was similar to that reported in the literature in sporadic cases but lower than previously described in familial ones. PMID: 28672280

Data suggest that a familial case of CPP (central precocious puberty) in which three out of four girls are affected is due to a novel MKRN3 nonsense mutation (p.Glu298Ter, N/E298); the affected siblings are the proband/oldest sister and the youngest sisters, monozygotic twins; there are no sons in this family; the next-to-oldest sister and the father are carriers of this nonsense mutation. [CASE REPORT; LETTER] PMID: 28132164

Two heterozygous frameshift mutations (c.441_441delG, p.H148Tfs*23 and c803_803delAT, p.M268Vfs*23) were described in the MKRN3 gene in 2 probands with familial idiopathic central precocious puberty and in some of their family members. These frameshift mutations create a premature stop codon and result in a truncated protein. PMID: 27798941

This study demonstrated a high frequency of MKRN3 mutations in boys with Central Precocious Puberty , previously classified as idiopathic, suggesting the importance of genetic analysis in this group. PMID: 27225315

The genetic findings in our patients' cohort with central precocious puberty are in agreement with the hypothesis that the MKRN3 gene may act as an inhibitor of GnRH secretion during childhood. 13 It seems that MKRN3 gene alterations do not necessarily lead to early pubertal development in males, but paternally inherited MKRN3 mutations are responsible for central precocious puberty in females. PMID: 27640350

MKRN3 is the most frequent genetic cause of familial Idiopathic Central Precocious Puberty, so it is wise to screen for MKRN3 mutations in all patients with familial Idiopathic Central Precocious Puberty and in patients with an unclear paternal pubertal history. PMID: 27931036

Declining MKRN3 before pubertal onset support MKRN3 as an inhibitor of GnRH secretion during midchildhood. PMID: 27057785

The identification of carriers of MKRN3 mutations may contribute to early diagnosis of Central Precocious Puberty, facilitating treatment decisions and guiding genetic counseling and prompt intervention in familial cases. PMID: 27424312

Peripheral MKRN3 levels in boys appear to serve as a readout of the diminishing central inhibition that controls the onset of puberty. PMID: 27025240

Data show similar circulating MKRN3 levels in men with congenital hypogonadotropic hypogonadism (CHH)and healthy controls. PMID: 26175221

Data indicate that a novel mutation in the makorin ring finger protein 3 (MKRN3) gene in two sisters with central precocious puberty (CPP) was identified. PMID: 26173472

the present study reveals a relatively low number of MKRN 3 mutations in Korean girls with CPP. PMID: 25938887

Case Report: MKRN3 missense mutation in a Danish girl with central precocious puberty and her brother with early puberty. PMID: 26331766

prevalence of MKNR3 mutations is high in familial cases of idiopathic central precocious puberty (iCPP); onset occurs earlier in patients with MKRN3 mutations than in those without the mutations and sexual dimorphism for age at puberty onset persists in patients with mutations; MKRN3 mutations accelerate postnatal development of the gonadotropic axis PMID: 26431553

MKRN3 plays an inhibitory role in the reproductive axis to represent a new pathway in pubertal regulation. [Review] PMID: 25957321

Declining levels of circulating MKRN3 preceded pubertal onset. The negative correlation between MKRN3 and gonadotropins further supports MKRN3 as a major regulator of hypothalamic GnRH secretion during childhood. PMID: 25695892

The MKRN3 protein has a fundamental role in determining pubertal timing. PMID: 25316453

MKRN3 mutations appear to be a frequent cause of familial CPP and, considering the imprinted mode of inheritance, may also account for a certain proportion of isolated CPP cases. PMID: 25011910

this study identified novel inherited MKRN3 defects in children with apparently sporadic central precocious puberty, supporting a fundamental role of this peptide in the suppression of the reproductive axis. PMID: 24628548

A novel MKRN3 mutation (p.C340G) in a girl with central precocious puberty and her brother with early puberty. PMID: 24438377

Deficiency of MKRN3 causes central precocious puberty in humans. PMID: 23738509

MKRN3 gene is imprinted, with preferential expression from the paternal allele. PMID: 10196367

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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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