2024年12月24日 · CEP250 (Centrosomal Protein 250) is a Protein Coding gene. Diseases associated with CEP250 include Cone-Rod Dystrophy And Hearing Loss 2 and Usher Syndrome. Among its related pathways are Loss of proteins required for interphase microtubule organization from the centrosome and Cell Cycle, Mitotic.

Centrosome-associated protein CEP250 is a protein that in humans is encoded by the CEP250 gene. [5] [6] [7] This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis.

Ubiquitous expression in testis (RPKM 6.5), spleen (RPKM 5.2) and 24 other tissues. 该基因编码细胞周期间期中心粒-中心粒凝聚所需的核心中心体蛋白。 当亲本中心粒在有丝分裂开始时分离时，编码的蛋白质从中心体解离。 该蛋白与 NIMA 相关激酶 2 结合并被其磷酸化，后者也与中心体相关。 可变剪接导致编码不同异构体的多个转录变体。 [RefSeq 提供，2015 年 12 月]

2025年2月20日 · CEP250 mutation is associated with Usher syndrome. Our data indicate that mutations of CEP250 can cause mild cone-rod dystrophy (CRD) and early-onset sensorineural hearing loss (SNHL) in Japanese patients.

Title: High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Our data indicate that mutations of CEP250 can cause mild cone-rod dystrophy (CRD) and early-onset sensorineural hearing loss (SNHL) in Japanese patients.

2022年1月18日 · The invalidation of Cep250 induces centrosome precocious separation at the early stages of spermatogenesis, resulting in male infertility. Our analysis of spermatogenesis in Cep250-/-mice revealed that two main steps were

2024年3月1日 · CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.

2013年2月28日 · CEP250 was the only antigen specifically recognized by sera from lymphoma patients. At the mRNA level, CEP250 expression was upregulated in cell lines from hematological malignancies when compared to normal lymphocytes, and there also appeared to be more CEP250 protein in T-cell-derived cell lines (Cooper et al. 2011 ).

CEP250 pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and atypical Usher related-genes, in patients with isolated r</span> …

关于 Cep250 功能概要 Predicted to enable protein C-terminus binding activity; protein domain specific binding activity; and protein kinase binding activity.