Anti-CEP290 antibody 1C3G10

  • Description

  • Application Data

Description

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.

See full description

Application Data

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 biology18(12): e3001034.

Material Safety Data Sheet (MSDS)

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.

Anti-CEP290 antibody 1C3G10

Cat No.Pack SizePriceQty.
20µg£200.00
100µg£300.00
Bulk Quote