2024年12月24日 · CEP290 (Centrosomal Protein 290) is a Protein Coding gene. Diseases associated with CEP290 include Joubert Syndrome 5 and Senior-Loken Syndrome 6. Among …

The gene CEP290 is a centrosomal protein that plays an important role in centrosome and cilia development. This gene is vital in the formation of the primary cilium , a small antenna-like …

The CEP290 gene provides instructions for making a protein that is present in many types of cells, including in the eye's light receptor cells (photoreceptors). Although this protein's function is …

One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over …

Fluorescence- and epitope-tagged CEP290 associated with centrosomes in a transfected human osteoblastoma cell line. Monoclonal antibody 3H11 binds to cancer cells from various tissues.

Cep290 (also known as NPHP6) is a large multidomain coiled-coil protein that localizes in the centrosome/basal bodies and the cilia transition zone.

2024年5月6日 · CEP290-associated inherited retinal degeneration causes severe early-onset vision loss due to pathogenic variants in CEP290. EDIT-101 is a clustered regularly …

该基因编码的蛋白质具有 13 个假定的卷曲螺旋结构域、一个与 SMC 染色体分离 ATP 酶同源的区域、六个 KID 基序、三个原肌球蛋白同源结构域和一个 ATP/GTP 结合位点基序 A。 该蛋白 …

2025年2月9日 · CEP290 mutations represent one of the most frequent causes of Leber congenital amaurosis identified so far. CEP290 (also known as NPHP6) interacts with and modulates the …

2024年7月15日 · 编码中心体蛋白290 (centrosomal protein 290，CEP290)基因的致病性变异导致的CEP290相关遗传性视网膜变性，这是一种与生命第一个十年的视觉障碍相关的严重疾病。 …