Catalog No.
YHA40801
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Thr1289-Arg1416
Predicted molecular weight
17.89 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O15078
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Nephrocystin-6, KIAA0373, CEP290, Bardet-Biedl syndrome 14 protein, Tumor antigen se2-2, BBS14, NPHP6, Centrosomal protein of 290 kDa, Cancer/testis antigen 87, Cep290, CT87
CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies., PMID:40270641
Disrupted glucocorticoid receptor cell signalling causes a ciliogenesis defect in the fetal mouse renal tubule., PMID:40247090
Sex-specific attenuation of photoreceptor degeneration by reserpine in a rhodopsin P23H rat model of autosomal dominant retinitis pigmentosa., PMID:40231721
Cryo-EM of AKAP350/AKAP9 Reveals Fibrillar Clusters and an Association With DNA., PMID:40154916
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids., PMID:39934925
Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors., PMID:39896654
From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases., PMID:39889868
Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype., PMID:39766851
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients., PMID:39761966
SNRPB and CEP290, predicting the prognosis of diffuse large B cell lymphoma and associated with tumour immune microenvironment., PMID:39624962
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease., PMID:39596324
[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis]., PMID:39569776
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system., PMID:39393808
Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction., PMID:39388365
CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system., PMID:39359098
Exonic splice variant discovery using in vitro models of inherited retinal disease., PMID:39354715
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review., PMID:39213781
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium., PMID:39189993
Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration., PMID:38881603
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients., PMID:38816995
Gene Editing for CEP290-Associated Retinal Degeneration., PMID:38709228
Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis., PMID:38662103
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system., PMID:38645107
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene., PMID:38534367
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models., PMID:38474133
Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation., PMID:38442096
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland., PMID:38160664
Phosphorylation of MIF by PIP4K2a is necessary for cilia biogenesis., PMID:38052787
Update on gene therapies in pediatric ophthalmology., PMID:38043982
Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing., PMID:38014853
A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay., PMID:37766766
CRB3 navigates Rab11 trafficking vesicles to promote γTuRC assembly during ciliogenesis., PMID:37737843
DNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability., PMID:37640708
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing., PMID:37510321
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models., PMID:37371046
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort., PMID:37240262
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features., PMID:37224330
The challenge of dissecting gene function in model organisms: Tools to characterize genetic mutants and assess transcriptional adaptation in zebrafish., PMID:37164532
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4., PMID:36990420
Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects., PMID:36975211
Prospective study and validation of early warning marker discovery based on integrating multi-omics analysis in severe burn patients with sepsis., PMID:36659877
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome., PMID:36580738
[Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290]., PMID:36537646
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants., PMID:36533556
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCACEP290 patients., PMID:36495011
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene., PMID:36493848
For research use only. Not for human or drug use.
