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
- 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 - The growth curve is a vital instrument for assessing and forecasting weight and developmental shifts in livestock and poultry, which reflects the changes of bodyweight traits with time and plays a key role in guiding breeding and production approaches. This study performed a genome-wide association study (GWAS) for growth curve parameters generated by nonlinear models which fit original weight-age records, to discover the SNPs and candidate genes correlated with growth traits. Data from 362 Chinese Wenshang Barred Chickens weighed at the age of 0, 2, 4, 6, 8, 10, 12, 14, 16, and 18 weeks were used to fit the Gompertz, Logistic, and von Bertalanffy growth models. The Gompertz model showed the highest coefficient of determination (R = 0.974). The mature body weight (A), time scale (b), and maturity rate (k) were treated as phenotypes for single-trait GWAS. The GWAS identified 44, 103, and 5 significant single nucleotide polymorphisms (SNPs) associated with A, b, and K, respectively. Among them, several candidate genes, including LDB2, TOB2, RCBTB1, KPNA3, SLIT2, LCORL, LAP3, and TPRA1, were previously reported to be associated with growth and development. Two lead SNPs (4:76022389, 4:76070237) on the LDB2 gene were significantly associated with the growth curve. Further research of these candidate genes could help explore the full genetic architecture underlying growth and development traits in poultry. - Source: PubMed
Publication date: 2025/01/02
Zhou YanLiu JieLei QiuxiaHan HaixiaLiu WeiLi DapengSun YanHao DanLi FuweiCao DingguoWang Jie - Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known to display both clinical and genetic heterogeneity. A further complexity is that for several IRD-associated genes, pathogenic variants have been reported to cause either autosomal dominant (AD) or autosomal recessive (AR) diseases. The possibility of dual inheritance can create a challenge for variant interpretation as well as the genetic counselling of patients. This review aims to determine whether the molecular mechanisms behind the dual inheritance of each IRD-associated gene is well established, not yet properly understood, or if the association is questionable. Each gene is discussed individually in detail due to different protein structures and functions, but there are overlapping characteristics. For example, eight genes only have a limited number of reported pathogenic variants or a hotspot region implicated in the second inheritance pattern. Whereas CRX and RP1 display distinct spatial patterns for AR and AD pathogenic variants based on the variant type and/or location. The genes with a questionable dual inheritance, namely AIPL1, CRB1, and RCBTB1 highlight the importance of carefully considering allele frequency data. Finally, the crucial role relevant functional studies in animal and cell models play in validating a variant's biochemical or molecular effect is emphasised. - Source: PubMed
Publication date: 2024/10/31
Holtes Lara Kde Bruijn Suzanne ECremers Frans P MRoosing Susanne