Ask about this productRelated genes to: RCBTB1 antibody
- Gene:
- RCBTB1 NIH gene
- Name:
- RCC1 and BTB domain containing protein 1
- Previous symbol:
- -
- Synonyms:
- FLJ10716, CLLD7, CLLL7
- Chromosome:
- 13q14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-02
- Date modifiied:
- 2016-10-05
Related products to: RCBTB1 antibody
Related articles to: RCBTB1 antibody
- Biallelic pathogenic variants in the RCC1 and BTB domain-containing protein 1 (RCBTB1) gene cause an adult-onset retinal dystrophy. Here, we generated a knockout mouse model of RCBTB1 deficiency for the evaluation of RCBTB1 gene therapy. - Source: PubMed
McLenachan SamuelRashwan RababHuang ZhiqinMoon Sang YoonZaw KhineHannan Caitlin RPervan SlavicaZhang DanGriffiths LisaCarvalho Livia SChen Fred K - Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP. Dual-gene defect constellations are rare but may modify disease presentation, complicating diagnosis, prognosis and therapeutic decision-making. This study aimed to characterize the clinical and genetic effects of dual-gene variants in patients with RP as the lead diagnosis. - Source: PubMed
Publication date: 2026/06/26
Wolfram LasseBodenbender Jan-PhilippMerle David AReith MildaSonntag AntonStingl KrunoslavHaack Tobias BZuleger TheresiaWissinger BerndKühlewein LauraStingl KatarinaKohl Susanne - Parkinson's Disease (PD) is a complex neurodegenerative disorder with a largely undefined genetic architecture, particularly regarding the role of rare coding variants. We performed a large-scale exome-wide association study to systematically identify rare genetic risk factors for PD. We analyzed whole-exome sequencing (WES) data from 3,602 PD patients and a strictly defined control group of 145,496 individuals of European ancestry from the UK Biobank. We focused on identifying high-confidence protein-truncating variants (PTVs) and used a rigorous gene-based association analysis to find genes significantly associated with PD risk. Our analysis identified PTVs in nine genes that were significantly more frequent in PD cases. These include three previously reported genes for PD/parkinsonism (ATP5F1C, COMMD9, and OPA1) and six novel genes (RGMB, SNX13, MGST2, NMBR, RCBTB1, and JAG1). Following sensitivity analyses, eight genes remained significant. Functional enrichment analysis highlighted pathways related to Notch binding and glutathione transferase activity. This study significantly expands the known genetic landscape of PD by identifying six novel candidate risk genes. Our findings underscore the importance of rare, high-impact PTVs in PD pathogenesis and provide new avenues for mechanistic research and the development of targeted therapeutics. - Source: PubMed
Publication date: 2025/12/03
Fan YuHu ZhenYan Qin-QinWan Jing-JinLiu Jun - Ovarian cancer (OC) is the most common and deadliest cancer in women worldwide. The high incidence and mortality rates highlight the serious threat that OC poses to women's health. Regulator of chromosome condensation (RCC1) and broad-complex, tramtrack and bric a brac ( BTB) domain-containing protein 1 (RCBTB1), which includes the RCC1 and BTB domains, is a cell proliferation-related protein. This study aims to reveal the role of RCBTB1 in OC and its possible pathway. - Source: PubMed
Publication date: 2025/08/01
Zhao GaowaXiao XiaochaoSong LimengQi Bangruo - Variants in the gene have recently been described in patients with inherited retinal disease; so far, there is limited knowledge about this entity, differential diagnoses, and disease progression. Here, we report a novel splice variant in and describe the associated retinopathy. - Source: PubMed
Publication date: 2025/10/29
Yang-Seeger DeniseHoppert Inga-MariaAtiskova YevgeniyaSpitzer Martin SBirtel Johannes