Ask about this productRelated genes to: NBEAL1 Blocking Peptide
- Gene:
- NBEAL1 NIH gene
- Name:
- neurobeachin like 1
- Previous symbol:
- ALS2CR17, ALS2CR16
- Synonyms:
- MGC164581
- Chromosome:
- 2q33.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-26
- Date modifiied:
- 2016-10-05
Related products to: NBEAL1 Blocking Peptide
Related articles to: NBEAL1 Blocking Peptide
- BEACH domain-containing proteins (BDCPs) represent a family of large membrane-associated transmembrane cargo adaptors. In the current study, we determined the cryo-EM structure of the full-length typical BDCP NBEAL2, revealing an N-terminal arch-like structure with C-terminal globular domains attached to its convex surface. Using structure-guided deletion mutants and protein chimeras as well as native alternatively spliced isoforms and disease-related point mutants, we show that the N-terminal α-solenoid/concanavalin A-like domain assembly of the typical BDCPs NBEAL1, NBEAL2, LYST, ALFY, LRBA, and NBEA functions as a modular membrane recruitment domain. We report that gray platelet syndrome-associated single aa mutations L388P or E643V within the membrane recruitment domain of NBEAL2 disrupt its membrane targeting in stably transfected cells, highlighting a potential structure-function mechanism by which failed membrane recruitment cause gray platelet syndrome or other BDCPs-related diseases. - Source: PubMed
Publication date: 2026/08/06
Dahl Anette KathinkaMann DanielLystad Alf HåkonSachse CarstenSimonsen AnnePankiv Serhiy - Atherosclerotic cardiovascular disease (ASCVD) represents a broad spectrum of phenotypes with shared pathology. However, the joint genetic architecture across different vascular beds remains incompletely characterized. - Source: PubMed
Publication date: 2026/07/15
Zhong DanfengYe YapingYe TingtingJin Shishi - BackgroundThe extent and biological relevance of shared genetic architecture between myocardial infarction (MI) and heart failure (HF) remain incompletely understood.MethodsWe analyzed large-scale European-ancestry genome-wide association studies summary statistics for MI and HF. Genome-wide genetic correlation was estimated using linkage disequilibrium score regression, and polygenic overlap was quantified using MiXeR. Shared loci were identified via conditional and conjunctional false discovery rate (condFDR/conjFDR) approaches. Functional prioritization incorporated Functional Mapping and Annotation-based annotation, Bayesian fine-mapping, transcriptome-wide association studies (TWAS), FOCUS gene fine-mapping, and summary-level Mendelian randomization (SMR) integrating UKB-PPP proteomic data.ResultsLinkage disequilibrium score regression revealed a robust positive genetic correlation between MI and HF (rg = 0.494, = 1.12 × 10). MiXeR demonstrated substantial polygenic overlap, with approximately 90% of MI-associated variants shared with HF and strong concordance in effect direction. The cond/conjFDR analyses identified multiple pleiotropic loci, including novel HF-associated regions. Fine-mapping prioritized rs544366796 within the SLC22A2/SLC22A3 locus as a high-confidence candidate variant for MI based on posterior probability. The TWAS and FOCUS highlighted canonical MI genes (CDKN2B, CELSR2, BRAP, NBEAL1) and identified MYOZ1 as an HF-specific candidate gene. Proteome-wide SMR analysis provided statistical evidence consistent with apolipoprotein E being a shared protein influenced by variants associated with both MI and HF.ConclusionThe MI and HF share substantial genetic liability characterized by strong polygenic overlap and pleiotropic loci. Our integrative analyses suggest a potential 2-stage genetic framework linking ischemic susceptibility to myocardial remodeling and HF progression, which should be interpreted as a hypothesis-generating conceptual model rather than direct evidence of temporal progression. - Source: PubMed
Publication date: 2026/05/16
Liu RuikangSun ChiyunJiang NanLiu YangLi JunZhang FuyuanChen CongLiu YiyingQi XiaodiGuo BingtingYang Kai - Structural variants (SVs) are a major source of genetic variation yet remain underexplored in healthy aging and neurodegenerative diseases. We performed nanopore long-read genome sequencing (lrGS) on 551 deeply-phenotyped individuals from Stanford's Aging and Memory Study and Alzheimer's Disease Research Center, generating a comprehensive SV map integrated with matched methylation, transcriptomic, and proteomic data. Over 60% of SVs identified by lrGS were not detected with short-read WGS, including many poorly tagged by single-nucleotide variants (SNVs). We discovered >60,000 SV-QTLs across molecular traits and showed that SVs were more likely than SNVs to be fine-mapped as causal. Colocalization with Alzheimer's and Parkinson's disease GWAS implicated SVs at multiple loci, including , , and . Multi-omic outlier enrichment and Bayesian modeling prioritized rare functional SVs near known risk genes. Combined, these data reveal widespread regulatory SVs in healthy aging and neurodegeneration, underscoring the importance of lrGS in deciphering complex genetic architecture. - Source: PubMed
Publication date: 2025/10/29
Jensen Tanner DLe Guen YannTalozzi LiaYang SherryGorzynski JohnPeña-Tauber AndrésStewart IlariaFerrasse AlexisNachun DanielArriaga Maggie TLee JustinPulgrossi Rafael CatoiaPark JunyoungZhang JingyuWagner Anthony DMormino Elizabeth CPoston Kathleen LHenderson Victor WHe ZihuaiWyss-Coray TonyMontgomery Stephen BAshley Euan AGreicius Michael D - Next-generation sequencing (NGS) allows for the simultaneous sequencing of multiple cancer predisposition genes. We assessed the frequency and spectrum of germline variations in individuals with ovarian cancer (OC), using whole exome sequencing (WES). - Source: PubMed
Publication date: 2025/05/22
Guan XiaojingLiao ShengZhang FenglanZhu QianyuanQiu HaoQin LanZhang Xiao