Anti-CEP290 抗体 (ab84870)
Key features and details
- Rabbit polyclonal to CEP290
- Suitable for: ICC/IF
- Reacts with: Human
- Isotype: IgG
製品の概要
-
製品名
Anti-CEP290 antibody
CEP290 一次抗体 製品一覧 -
製品の詳細
Rabbit polyclonal to CEP290 -
由来種
Rabbit -
アプリケーション
適用あり: ICC/IFmore details -
種交差性
交差種: Human
交差が予測される動物種: Horse, Rhesus monkey, Gorilla, Orangutan, Elephant -
免疫原
Synthetic peptide corresponding to a region between residues 2429 and 2479 of human CEP290 (NP_079390.3).
-
特記事項
The Life Science industry has been in the grips of a reproducibility crisis for a number of years. Abcam is leading the way in addressing this with our range of recombinant monoclonal antibodies and knockout edited cell lines for gold-standard validation. Please check that this product meets your needs before purchasing.
If you have any questions, special requirements or concerns, please send us an inquiry and/or contact our Support team ahead of purchase. Recommended alternatives for this product can be found below, along with publications, customer reviews and Q&As
製品の特性
-
製品の状態
Liquid -
保存方法
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles. -
バッファー
pH: 6.8
Preservative: 0.09% Sodium azide
Constituents: 0.1% BSA, Tris buffered saline -
Concentration information loading...
-
精製度
Immunogen affinity purified -
特記事項(精製)
Purified using an epitope specific to CEP290 immobilized on solid support. Antibody concentration was determined by extinction coefficient: absorbance at 280 nm of 1.4 equals 1.0 mg of IgG. -
ポリ/モノ
ポリクローナル -
アイソタイプ
IgG -
研究分野
関連製品
-
Compatible Secondaries
-
Isotype control
-
Recombinant Protein
アプリケーション
The Abpromise guarantee
Abpromise保証は、 次のテスト済みアプリケーションにおけるab84870の使用に適用されます
アプリケーションノートには、推奨の開始希釈率がありますが、適切な希釈率につきましてはご検討ください。
アプリケーション | Abreviews | 特記事項 |
---|---|---|
ICC/IF |
1/100 - 1/500. Fix with formaldehyde. Acetone fixation is not recommended.
|
特記事項 |
---|
ICC/IF
1/100 - 1/500. Fix with formaldehyde. Acetone fixation is not recommended. |
ターゲット情報
-
機能
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. -
組織特異性
Ubiquitous. Expressed strongly in placenta and weakly in brain. -
関連疾患
Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. 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) [MIM:610189]. 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) [MIM:611755]. 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) [MIM:611134]. 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.
Note=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) [MIM:209900]. 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). -
細胞内局在
Cytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. - Information by UniProt
-
参照データベース
- Entrez Gene: 80184 Human
- Omim: 610142 Human
- SwissProt: O15078 Human
- Unigene: 150444 Human
-
別名
- 3H11AG antibody
- Bardet-Biedl syndrome 14 protein antibody
- BBS14 antibody
see all
画像
データシートおよび資料
-
SDS download
-
Datasheet download
参考文献 (32)
ab84870 は 32 報の論文で使用されています。
- Wang J et al. Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Dis Model Mech 15:N/A (2022). PubMed: 36533556
- Chen C et al. Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKI?. Sci Adv 7:N/A (2021). PubMed: 34162535
- Wiegering A et al. Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Mol Biol Cell 32:675-689 (2021). PubMed: 33625872
- Fogerty J & Perkins BD Knockout of the CEP290 gene in human induced pluripotent stem cells. Stem Cell Res 52:102243 (2021). PubMed: 33626495
- Meitinger F et al. TRIM37 prevents formation of condensate-organized ectopic spindle poles to ensure mitotic fidelity. J Cell Biol 220:N/A (2021). PubMed: 33983387