Anti-CEP290 antibody 1C3G10
Description
Application Data
Description
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An antibody raised against centrosomal protein of 290 kDa (CEP290). CEP290 plays a crucial role in cilia formation and centrosomal protein recruitment and activates ATF4-mediated transcription.
Application Data
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Material Safety Data Sheet (MSDS)Catalogue number crb5005323 Antibody Anti-CEP290 antibody 1C3G10 Antigen Peptide crb1200559 Protein ID UniprotKB O15078 Cross-Reactivity Human, Mouse Target Protein Species Human, Mouse Host Species Mouse Antibody Type Monoclonal Concentration 1mg/ml Validation WB/ELISA Target CEP290 Storage Stabilisers This material is supplied in PBS, pH7 containing 1% trehalose and 0.01% sodium azide. The product should be stored at +4°C for short term storage and -80°C for long term storage. Avoid repeated freeze/ thaw cycles. Citations Mercey et al., (2022). The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration. PLoS Biol., 20(6): e3001649. PMID: 35709082.
References Leroy et al., (2021). LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. Retina., 41(5): 898. PMID: 33595255.
Wu et al., (2020). CEP290 is essential for the initiation of ciliary transition zone assembly. PLoS biology, 18(12): e3001034.
CEP290 localises to the centrosomes of dividing cells and to the connecting cilium of photoreceptors. CEP290 associates with several microtubule-based transport proteins, including RPGR.
CEP290 is located in the connecting cilium of cone and rod photoreceptors which is essential for the formation and stability of primary cilia regulating protein traffic between the photoreceptor inner and outer segments. As the maintenance of the outer segment of the photoreceptor relies on proteins and lipids trafficked from the inner segment, a reduction of functional CEP290 is believed to lead to retinal degeneration.
Photoreceptor degradation can be due to a collapse of the connecting cilium and has been linked to CEP290. mutations in the gene encoding CEP290 can cause Leber congenital amaurosis (LCA), retinitis pigmentosa and early-onset severe retinal dystrophy. Aberrant CEP290 expression in other tissues is associated with Bardet–Biedl syndrome, Joubert syndrome, Meckel–Gruber syndrome, and Senior–Løken syndrome. Biallelic loss-of-function mutations in CEP290 cause LCA-ciliopathy.