Human Centrosomal Protein 290 kDa,CEP290 ELISA KIT

SKU: E7141Hu

Size:96 Tests-1 Kit

Background:Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:25552655}.

Research_area:

Applications:ELISA

Target_protein:CEP290

Reactivity:Human

Assay type:Sandwich

Sensitivity:12.21mg/L

Detection range:20-4500mg/L

Sample type:Serum, plasma or other biological fluids

Full product name:Centrosomal Protein 290 kDa

Species:Human

Storage:2-8ºC

Assay time:1h 30m

UniProt accession:O15078

MASS(Da):290386

GeneID:80184

Synonyms:CEP290 BBS14 KIAA0373 NPHP6

Gene names:CEP290

Standard solution:4800mg/L