Ask about this productRelated genes to: CACNB3 antibody
- Gene:
- CACNB3 NIH gene
- Name:
- calcium voltage-gated channel auxiliary subunit beta 3
- Previous symbol:
- CACNLB3
- Synonyms:
- -
- Chromosome:
- 12q13.12
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-09
- Date modifiied:
- 2016-02-04
Related products to: CACNB3 antibody
Related articles to: CACNB3 antibody
- Infantile nystagmus (IN) is a common neuro-ophthalmological disorder that presents as early-onset involuntary oscillations of the eyes. Here, we report a novel genotype-phenotype correlation that associates sequence alterations in the calcium voltage-gated channel auxiliary subunit beta 3 () gene, encoding the Caβ3 protein, with idiopathic infantile nystagmus (IIN). Linkage analysis, whole exome and Sanger sequencing identified a homozygous missense mutation (c.316G>C) in co-segregating with IIN. Our calcium imaging experiments suggest that the p.Gly106Arg mutation in the Src homology 3 domain of Caβ3 may impair voltage-gated calcium channel function at the plasma membrane and may increase ligand-triggered inositol trisphosphate receptor mediated calcium release at the endoplasmic reticulum. Co-localization studies indicate reduced plasma membrane localization of the calcium channel. We propose to be a novel gene associated with IIN. Our findings point towards an important role of calcium-signalling in IIN and may contribute to deciphering its aetiology. - Source: PubMed
Publication date: 2026/02/07
Jüschke ChristophLinsel KiraOwczarek-Lipska MartaBrandt NicolaZunken SarahAltmüller JaninePreising Markus NKastrati DennisThiele HolgerThomas Mervyn GNürnberg PeterLorenz BirgitKellner UlrichBräuer Anja UKorenke G ChristophGottlob IreneNeidhardt John - The quality of hatching eggs and their hatchability are key factors affecting the production efficiency of breeding flocks. The quality of hatching eggs is commonly graded directly based on the eggshell quality. Our study monitored the eggshell quality and hatchability in Hy-Line Brown laying hens aged 23 to 73 weeks, to determine core eigenvectors that influence hatchability from multiple eggshell quality indicators. Hatching performance indicators, including fertile egg rate, hatchability of fertile eggs and hatchability of eggs set, were found to exhibit a trend of low level in early laying stage, and increased to a peak at 39 weeks of age during mid-laying stage, followed by a continuous decline in late laying stage. Similar trend also observed in eggshell quality indicators, such as eggshell strength, eggshell thickness, eggshell weight, eggshell rate and eggshell microstructure. Canonical correlation analysis revealed egg weight, equatorial eggshell thickness and pointed end eggshell thickness showed strong correlation with the main indicators affecting hatchability of fertile eggs (r = 0.987, P = 0.013). Further, shell gland RNA sequencing was applied to explore candidate genes or pathways that might affect eggshell thickness. Short time series expression miner (STEM) analysis identified several key genes (ATP2C2, CA9, CDC20B, WNT4, WNT7A and CACNB3) that were enriched in pathways related to calcium signaling, bicarbonate metabolism, vesicle transport and Wnt signaling, thereby highlighting their potential critical roles in eggshell thickness regulation. Our findings preliminarily delineate the relationship between easily measurable eggshell quality and hatchability, which provides a theoretical basis and candidate gene targets for improving hatching performance. - Source: PubMed
Publication date: 2026/01/18
Zhang ChenxiCao RanranWei SiqinWang ShuCai ZhaoShi JunlaiLei YanruWang KejunTian YadongSun GuirongKang XiangtaoLi Wenting - Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting women of reproductive age. It is characterized by symptoms such as hyperandrogenemia, oligo or anovulation and polycystic ovarian, significantly impacting quality of life. However, the practical implementation of machine learning (ML) in PCOS diagnosis is hindered by the limitations related to data size and algorithmic models. To address this research gap, we have increased the sample size in our study and aim to utilize two ML algorithms to analyze and validate diagnostic biomarkers, as well as explore immune cell infiltration patterns in PCOS. - Source: PubMed
Publication date: 2025/01/03
Chen WenxiuMiao JianliangChen JingfeiChen Jianlin - Tight control of cytoplasmic Ca concentration in endothelial cells is essential for the regulation of endothelial barrier function. Here, we investigated the role of Cavβ3, a subunit of voltage-gated Ca (Cav) channels, in modulating Ca signaling in brain microvascular endothelial cells (BMECs) and how this contributes to the integrity of the blood-brain barrier. - Source: PubMed
Publication date: 2024/07/03
Martus DamianWilliams Sarah KPichi KiraMannebach-Götz StefanieKaiser NicolasWardas BarbaraFecher-Trost ClaudiaMeyer Markus RSchmitz FrankBeck AndreasFairless RichardDiem RicardaFlockerzi VeitBelkacemi Anouar - Antihypertensive drugs are known to lower cardiovascular mortality, but the role of different types of antihypertensive drugs in lifespan has not been clarified. Moreover, the underlying mechanisms remain unclear. - Source: PubMed
Fan BohanZhao Jie V