Recombinant Human Paired Box Protein Pax-6 (PAX6) Protein (His)

Name: Recombinant Human Paired Box Protein Pax-6 (PAX6) Protein (His)
Brand: Beta LifeScience
SKU: BLC-07534P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Paired Box Protein Pax-6 (PAX6) Protein (His) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	P26367
Target Symbol	PAX6
Synonyms	(Aniridia type II protein)(Oculorhombin)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
Expression Range	1-422aa
Protein Length	Full Length
Mol. Weight	52.6 kDa
Research Area	Developmental Biology
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	Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression.
Subcellular Location	Nucleus.; [Isoform 1]: Nucleus.; [Isoform 5a]: Nucleus.
Protein Families	Paired homeobox family
Database References	HGNC: 8620 OMIM: 106210 KEGG: hsa:5080 STRING: 9606.ENSP00000368401 UniGene: PMID: 29716531 Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family have been reported. PMID: 29930474 PAX6 variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia. PMID: 29618921 High PAX6 expression is associated with retinoblastoma. PMID: 30015924 Knock-in 2A-EGFP cassette into PAX6 exon of embryonic stem cells H1 with TALEN-based homology recombination could establish PAX6(WT/EGFP) H1 reporter cell line fast and efficiently. This reporter cell line could differentiate into PAX6 and EGFP double positive neural progenitor/stem cells (NPCs/NSCs) after neural induction. PMID: 29807013 This study revealed an outstanding mutation pattern in non-coding PAX6 regions confirming that PAX6 remains the major gene for aniridia. PMID: 30291432 This is the first report on the mutational spectrum of PAX6 in aniridia patients of Cypriot ancestry. PMID: 29901133 Deletions of the 3 ' regulatory regions downstream of paired box protein (PAX6) abrogate its expression leading to aniridia due to PAX6 haploinsufficiency in a 44-year-old mother and her 13-year-old son. PMID: 29932076 The results demonstrated that miR874 may serve tumor suppressive roles in pancreatic ductal adenocarcinoma (PDAC) by directly targeting PAX6. Therefore, miR874 may exhibit potential applications for treatment of patients with PDAC. PMID: 29845293 PAX6 was upregulated in Colorectal cancer tissues and was negatively correlated with miR383 expression. PMID: 29512711 PAX6 knockdown recapitulated effects similar to those observed following miR-655 overexpression regarding the proliferation, invasion and apoptosis of retinoblastoma (RB)cells. Rescue experiments demonstrated that restoration of PAX6 expression reversed the tumour-suppressing roles of miR-655 in RB cells PMID: 29436689 excessive PAX6 expression in insulin-challenged endometrial epithelial cells may contribute to the uncontrollable endometrial epithelial proliferation in polycystic ovarian syndrome PMID: 29112933 overexpression of CHD1L in embryonic cells upregulated the expression of ectoderm genes, especially PAX6 PMID: 28946814 PAX6 mutations explained 96.7% of aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene. PMID: 28321846 Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. PMID: 29380764 it was suggested that miR-19, upregulated in osteosarcoma cells, negatively regulated the expression of Pax6, which can promote the malignant phenotypes of osteosarcoma cells via activation of the extracellular signal-regulated kinase signaling pathways PMID: 29345189 Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region. PMID: 29217025 findings shed new light on the miR-223/PAX6 pathway in glioma and this pathway might modulate the sensitivity of glioma to TMZ via regulating PI3K/Akt signaling pathway. PMID: 28332226 Our study identified two novel PAX6 variants in two families with aniridia and revealed the pathogenicity of the variants; this would expand the variant spectrum of PAX6 and help us better understand the molecular basis of aniridia, thus facilitating genetic counseling. PMID: 28157223 highly conserved Sox2/Pax6 bound site near the Sprouty2 locus was verified to promote cooperative dimerization designating Sprouty2 as a potential target reliant on Sox2/Pax6 cooperativity in several neural cell types. PMID: 29050852 It is important to establish the molecular diagnosis early to avoid repeated and long-term screening for Wilms tumor. Our work further emphasizes that a wide range of ocular phenotypes are associated with loss of function PAX6 mutations. PMID: 26849621 A novel mutation (c.1033-1_1033delinsCT) and a reported mutation (c.1183 + 1G > A) within PAX6 gene were identified in two families with aniridia. The PAX6 mutations caused aberrant patterns of RNA splicing. PMID: 28760551 reduced expression of PAX6 in metabolically stressed beta cells may contribute to beta cell failure and alpha cell dysfunction in diabetes. PMID: 27941241 variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now. PMID: 28300742 epigenetic factor CTCF-mediated chromatin remodeling regulates interactions between eye-specific PAX6 and those genes that are induced/associated with cell differentiation to modulate corneal epithelial cell-specific differentiation PMID: 27583466 PAX6-depleted CECs maintained the epithelial morphology, but became larger. Global analyses using microarray revealed that down-regulated genes were primarily CEC-specific PMID: 27818314 photoinduced excess electron transfer assay can be used for analysing cooperativity of proteins in transcription complex using cooperative binding of Pax6 to Sox2 on the regulatory DNA element (DC5 enhancer) as an example. PMID: 27229137 Data indicate paired box gene 6 (aniridia, keratitis) protein (PAX6) haploinsufficiency as causal for aniridia. PMID: 26661695 Downregulation of PAX6 is associated with glioma progression. PMID: 28184912 Overexpression of paired box 6 increased the inhibitory effect of temozolomide on GBM cell proliferation; on the other hand, knockdown of paired box 6 abolished the inhibitory effect of temozolomide on GBM cell proliferation. PMID: 28035389 the present study identified a heterozygous deletion and a run-on mutation in PAX6 in two families with autosomal dominant aniridia. PMID: 27431685 Fourteen of these mutations presented in the known aniridia genes; PAX6, FOXC1 and PITX2. PMID: 27124303 we show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression PMID: 26899008 We report the first association study of the transcription factor PAX6 with HSCR and that its low expression levels may result in an aberrant neurogenesis, which is directly related with manifestation of HSCR phenotype. PMID: 26879676 Data suggest that promoter hypermethylation of PAX6 is a common event in hepatocellular carcinoma and the association of PAX6 methylation in clinicopathological features is divergent with different viral status. PMID: 27110298 congenital primary aphakia is associated with PAX6 mutation. PMID: 26130484 We found that PAX6 gene was specifically methylated in non small cell lung cancer PMID: 26617874 findings suggest that PAX6+/- is associated with smaller pineal size, lower melatonin secretion and greater parental report of sleep disturbances in children; further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/- PMID: 26439359 In post-mortem substantia nigra from Parkinson's disease patients, a reduced number of PAX6 expressing cells were found. PMID: 26295830 We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient PMID: 26440771 Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression PMID: 26394807 MicroRNA-7 inhibits the malignant phenotypes of nonsmall cell lung cancer in vitro by targeting Pax6 PMID: 26135959 ChIP experiments confirmed that Pdx1 activates the expression of the downstream transcription factors, Ngn3 and Pax6, by combined with the promoter regions of insulin (Insulin-P), Ngn3 (Ngn3-P), and Pax6 (Pax6-P). PMID: 26345820 we reported the results of the clinical and molecular evaluation of a threegeneration Chinese family with aniridia and identified a rare heterozygous M1K mutation in PAX6. PMID: 26535646 Trans-placental BPA exposure down-regulated gene expression of Sox2 and Pax6 potentially underlying the adverse effect on childhood neuronal development. [Meta-analysis] PMID: 25051057 Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. PMID: 25687215 SOX4, SOX11, and PAX6 were significant for tumor type. PMID: 25804118 the case of a Korean family with novel splice site mutation in the PAX6 gene in isolated aniridia inherited in an autosomal dominant manner, is reported. PMID: 25696017 loss of PAX6 converts LSCs to epidermal stem cells, as demonstrated by a switch in the keratin gene expression profile and by the appearance of congenital dermoid tissue PMID: 26045558 Dkk3/REIC3 expression is regulated by PAX6 in several human cell lines. PMID: 25029272

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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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