CEP290 sirna

CEP290 siRNA (Human)

Cat. Num. AAA8202328

• Gene Names: CEP290; CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: CEP290; CEP290 siRNA (Human); BBS14; KIAA0373; NPHP6; Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2; CEP290 sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: CEP290 siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 2479

• Applicable Applications for CEP290 sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human CEP290 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for CEP290 sirna

siRNA to inhibit CEP290 expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 109255234
• NCBI GeneID: 80184
• NCBI Accession #: NP_079390.3
• NCBI GenBank Nucleotide #: NM_025114.3
• UniProt Accession #: O15078; Q1PSK5; Q66GS8; Q9H2G6; Q9H6Q7; Q9H8I0
• Molecular Weight: 180,067 Da
• NCBI Official Full Name: centrosomal protein of 290 kDa
• NCBI Official Synonym Full Names: centrosomal protein 290kDa
• NCBI Official Symbol: CEP290
• NCBI Official Synonym Symbols: CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
• NCBI Protein Information: centrosomal protein of 290 kDa
• UniProt Protein Name: Centrosomal protein of 290 kDa
• Protein Family: Centrosomal protein
• UniProt Gene Name: CEP290
• UniProt Synonym Gene Names: BBS14; KIAA0373; NPHP6; Cep290; CT87
• UniProt Entry Name: CE290_HUMAN

NCBI Description

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

Uniprot Description

CEP290: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5). Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6). Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4). MKS4 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14). A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cancer Testis Antigen (CTA)

Chromosomal Location of Human Ortholog: 12q21.32

Cellular Component: centrosome; protein complex; membrane; cytoplasm; nucleus; cytosol; photoreceptor connecting cilium; gamma-tubulin complex

Molecular Function: protein binding; microtubule minus-end binding

Biological Process: protein transport; eye photoreceptor cell development; regulation of cAMP metabolic process; retina development in camera-type eye; positive regulation of transcription, DNA-dependent; organelle organization and biogenesis; establishment and/or maintenance of cell polarity; cilium biogenesis; mitotic cell cycle; otic vesicle formation; G2/M transition of mitotic cell cycle; pronephros development; hindbrain development

Disease: Bardet-biedl Syndrome 14; Leber Congenital Amaurosis 10; Meckel Syndrome, Type 4; Joubert Syndrome 5; Senior-loken Syndrome 6