Rabbit Endothelin 2,ET-2 ELISA Kit
- Known as:
- Rabbit Endothelin 2,ET-2 Enzyme-linked immunosorbent assay test Kit
- Catalog number:
- E0082Rb
- Product Quantity:
- 48T
- Category:
- Elisa Kits
- Supplier:
- Btlab
- Gene target:
- Rabbit Endothelin 2 ET-2 ELISA Kit
Ask about this productRelated genes to: Rabbit Endothelin 2,ET-2 ELISA Kit
- Gene:
- CAMLG NIH gene
- Name:
- calcium modulating ligand
- Previous symbol:
- -
- Synonyms:
- CAML, GET2
- Chromosome:
- 5q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-08
- Date modifiied:
- 2016-10-05
- Gene:
- EDN2 NIH gene
- Name:
- endothelin 2
- Previous symbol:
- -
- Synonyms:
- ET2
- Chromosome:
- 1p34.2
- Locus Type:
- gene with protein product
- Date approved:
- 1989-09-06
- Date modifiied:
- 2016-10-05
- Gene:
- ERGIC1 NIH gene
- Name:
- endoplasmic reticulum-golgi intermediate compartment 1
- Previous symbol:
- -
- Synonyms:
- ERGIC32, ERGIC-32, KIAA1181, NET24
- Chromosome:
- 5q35.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-19
- Date modifiied:
- 2015-05-27
- Gene:
- GCSAM NIH gene
- Name:
- germinal center associated signaling and motility
- Previous symbol:
- GCET2
- Synonyms:
- MGC40441, HGAL
- Chromosome:
- 3q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-01-15
- Date modifiied:
- 2016-10-05
- Gene:
- INTS1 NIH gene
- Name:
- integrator complex subunit 1
- Previous symbol:
- -
- Synonyms:
- DKFZp586J0619, KIAA1440, INT1, NET28
- Chromosome:
- 7p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-03-15
- Date modifiied:
- 2015-08-25
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- In this issue of Structure, Xue et al. present the cryo-EM structure of the Norrin-Tspan12 complex, revealing that Tspan12 directly binds a Norrin dimer without enhancing its affinity for FZD4. Instead, Tspan12 acts as a ligand organizer, enabling the assembly of a quaternary Norrin-FZD4-LRP5/6-Tspan12 signalosome. This study provides new insight into ligand-specific Wnt signaling. - Source: PubMed
Qi Xiaofeng - As an atypical Wnt ligand, Norrin initiates β-catenin signaling through the receptor Frizzled 4 (FZD4), the co-receptors Low-density lipoprotein receptor-related protein 5 or 6 (LRP5/6), and Tetraspanin 12 (Tspan12). Tspan12 interacts with Norrin via its large extracellular loop (LEL). However, the molecular mechanism by which Tspan12 enhances Norrin signaling has remained unclear. Here, we determined the cryo-EM structure of the Norrin-Tspan12 LEL complex at 3.78 Å resolution, which reveals that a Norrin dimer binds two Tspan12 molecules and defines the Norrin-Tspan12 interface. We show that Tspan12 binds directly to Norrin without enhancing the binding affinity between Norrin and FZD4. Our results support a model in which Norrin, FZD4, LRP5/6, and Tspan12 form a quaternary complex. As mutations in these proteins can lead to familial exudative vitreoretinopathy (FEVR), these findings are important for targeted therapy development. - Source: PubMed
Publication date: 2026/05/18
Xue LuluZhang MinDai ZhizhuoYue DanZheng JianhaoXu WenqingWang Zhizhi - To compare the genetic causes, prevalence, and clinical characteristics of syndromic and non-syndromic familial exudative vitreoretinopathy (FEVR). A total of 281 patients with FEVR who underwent clinical and genetic evaluation at five ophthalmological institutions in Japan between 2010 and 2023 were included. Whole-exome sequencing, Sanger sequencing, or karyotype analysis was performed using blood samples from probands and available family members. Clinical characteristics of FEVR probands were assessed according to the presence or absence of systemic abnormalities. Among the 281 FEVR probands, 42 (15%) had syndromic FEVR and 239 (85%) had non-syndromic FEVR. Syndromic FEVR was more frequently diagnosed during infancy (95% vs. 57%, < 0.0001) and occurred more often in sporadic cases (69% vs. 50%, = 0.028). Variants in Norrin/β-catenin signaling genes were less common in syndromic FEVR (29% vs. 54%, = 0.0026), whereas symmetrical retinal severity was more frequently observed (67% vs. 39%, = 0.001). Sex distribution did not differ between groups. Pathogenic variants were identified in 71% of syndromic cases, most commonly in , , , , , and . Syndromic FEVR exhibits distinct and heterogeneous genetic and clinical features compared with non-syndromic FEVR. Genotype-phenotype characterization may enable earlier diagnosis. - Source: PubMed
Publication date: 2026/04/08
Naruse ShoHayashi TakaakiTsukahara-Kawamura TomokoMatsushita ItsukaNagata TatsuoNishina SachikoEndo TakaoKusaka ShunjiKondo Hiroyuki - The genetic spectrum and early clinical indicators of familial exudative vitreoretinopathy (FEVR) remain incompletely defined, and few studies have investigated the genetic variants and clinical phenotypes associated with eoHM-FEVR and anisometropia-FEVR patients. The purpose of this study was to screen the pathogenic variations in 11 FEVR families and analyze the refractive status and pathogenic genes in patients with irregular dominantly inherited FEVR. - Source: PubMed
Publication date: 2025/12/29
Cheng Wan-YuRong Wei-NingLi Hui-PingWang Xiao-GuangQi RuiQi Xiao-LongSheng Xun-LunChi Wei - Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still a substantial number of genetically unsolved cases. The aim of this study was to analyse whole genome sequencing (WGS) data from the FEVR cases in the Genomics England (GEL) 100 000 genomes project to identify the causative variants. - Source: PubMed
Publication date: 2026/02/20
Sun DongHenderson Robert HClement EmmaMichaelides MichelKalitzeos AngelosWright Genevieve AMcloone EibhlinInglehearn ChrisPoulter James AToomes Carmel