Ask about this productRelated genes to: Ccbe1 antibody
- Gene:
- CCBE1 NIH gene
- Name:
- collagen and calcium binding EGF domains 1
- Previous symbol:
- -
- Synonyms:
- FLJ30681, KIAA1983
- Chromosome:
- 18q21.32
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-18
- Date modifiied:
- 2019-04-23
Related products to: Ccbe1 antibody
Related articles to: Ccbe1 antibody
- Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is an autosomal recessive disorder, caused by biallelic variants in CCBE1, FAT4, and ADAMTS3 genes. We herein report a 15-month-old male with peripheral lymphedema, facial dysmorphism, camptodactyly and generalized hypotonia. Solo exome sequencing revealed a homozygous splice site variant, c.12479+3A>G in intron 14 of FAT4 (NM_001291303.3). Reverse transcriptase-PCR (RT-PCR) was performed using cDNA isolated from patient-derived fibroblasts, which revealed aberrant splicing. This study provides a report of an additional family with a novel biallelic splice site variant in FAT4 which disrupts the normal splicing of the FAT4 mRNA, leading to aberrant splicing causing a milder form of HKLLS2. - Source: PubMed
Publication date: 2026/04/16
Mascarenhas SelindaGupta YashaviK A AkhilPande ShrutiShaikh HuzailGirisha Katta MohanRadhakrishnan PeriyasamyShukla Anju - Coronary artery disease (CAD) remains a leading cause of morbidity and mortality worldwide, and identifying accessible blood-based biomarkers is therefore a clinical priority. Given the involvement of oxidative stress and immune cell dysfunction in atherosclerosis, we investigated whether mitochondrial reactive oxygen species (mROS) production in peripheral blood mononuclear cells (PBMCs) is associated with CAD. This exploratory study analyzed PBMCs from 40 BioHEART-CT participants with or without CT-defined CAD using MitoSOX-based flow cytometry. In parallel, single-cell RNA sequencing (scRNA-seq) was conducted in the same individuals to investigate differential expression of CCBE1, a recently implicated gene in cardiovascular disease, across PBMC populations. Overall, mROS levels in PBMCs and their major cellular subtypes did not show consistent or meaningful associations with CAD status or with modifiable cardiovascular risk factors. Small, subgroup-specific signals-such as moderate association between lymphocyte mROS and coronary artery calcium score in males, and a modest inverse association between monocyte mROS and hypertension-were exploratory and not uniform across analyses. scRNA-seq analysis did not identify a distinct CCBE1 expression signature in PBMCs. These findings indicate that PBMC-derived mROS is unlikely to serve as a useful cross-sectional biomarker of CAD in stable populations. - Source: PubMed
Lee W EugeneHenry AlbertSpenceley Eleanor RuthSagi-Zsigmond EszterBowen BlakeNguyen Tung VGray Michael PGrieve Stuart MPowell Joseph EFigtree Gemma A - Autologous fat grafting is limited by unpredictable resorption and complications, largely due to inadequate revascularization and persistent inflammation. The molecular mechanisms underlying these processes remain poorly understood. - Source: PubMed
Publication date: 2026/01/08
Wu ShuZhu Yuan-ZhengZhang Min-ChenZeng Xing-HongShi Chen-LongGao HaiLiu Xue-FeiZhang You-LaiGan Pei-DongYi Yang-Yan - The gene encodes connexin 37 or Gap junction protein alpha-4. Gap junction proteins are required for lymphatic valvulogenesis. It is known that homozygous knockout of the Gja4 gene in mice leads to lymphatic system dysfunction and absent venous valves. In this report, we identify for the first time a homozygous nonsense variant in the gene, c.97delC (transcript ID NM_002060.3) or p.Arg33Alafs*98, or chr1:g.34794309delC (GRCh38 format) in a human fetus with increased nuchal fold thickness and abnormal fetal ductus venosus termination. Asymptomatic parents were carriers of the same variant. Additionally, a search of the literature showed that this specific variant in the gene has not been previously documented as a cause of human fetal disease. A STRING (Search Tool for Retrieval of Interacting Genes/Proteins) database analysis showed close interactions between the gene and other genes involved in the causation of hereditary lymphedema: and . However, STRING database analysis also showed no interaction of the gene with genes in the rasopathy pathway, which can also be causative of increased fetal nuchal translucency, namely and . Thus, we describe a novel gene-human fetal phenotype association. - Source: PubMed
Publication date: 2025/11/17
Chauhan BinodiniPrajapati Nilamben ASagarkar SnehaMenon PramilaKachhadiya TusharVaniawala ShalinVaniawala SalilTamhankar VasundharaTamhankar Parag M - Backfat thickness (BFT) is a vital economic trait in pigs, reflecting subcutaneous fat levels that affect meat quality and production efficiency. As a complex trait shaped by multiple genetic factors, BFT has been studied using genome-wide association studies (GWAS) and linkage analyses to locate fat-related quantitative trait loci (QTLs), but pinpointing causal variants and genes is hindered by linkage disequilibrium and limited regulatory data. This study aimed to dissect the QTLs affecting BFT on Sus scrofa chromosome 1 (SSC1), elucidating regulatory variants, effector genes, and the cell types involved. - Source: PubMed
Publication date: 2025/10/20
Yu NaibiaoCui DengshuaiLi ChenyuYang SiyuQiao ChuanminXie Lei