Anti-CEP290 antibody 1C3G10 - 1mg/mL

Ref. 3D-CRB5005323

Informations sur le produit

• Nom: Anti-CEP290 antibody 1C3G10 - 1mg/mL

Description

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-LÞken syndrome. Biallelic loss-of-function mutations in CEP290 cause LCA-ciliopathy.

• Marque: Biosynth