Ask about this productRelated genes to: KCNB1 Blocking Peptide
- Gene:
- KCNB1 NIH gene
- Name:
- potassium voltage-gated channel subfamily B member 1
- Previous symbol:
- -
- Synonyms:
- Kv2.1
- Chromosome:
- 20q13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1991-08-13
- Date modifiied:
- 2016-10-05
Related products to: KCNB1 Blocking Peptide
Related articles to: KCNB1 Blocking Peptide
- The voltage-gated potassium channel Kv2.1, encoded by the epileptic encephalopathy-associated gene KCNB1, is a primary driver of delayed-rectifier K currents in neurons. These currents contribute to high-frequency firing by preventing depolarization block due to Na channel inactivation. Wild-type (WT) channels are localized at the soma, proximal dendrites, and the initial segment of the axon, forming aggregates (clusters) via their C-terminal proximal restriction and clustering domain (PRC). This study investigated the biophysical and functional consequences of two C-terminal truncation mutations (Y529 and R579), identified in patients with epileptic encephalopathy, which disrupt this critical clustering domain. The mutations induced a change of Kv2.1 subcellular distribution towards distal dendrites and the axon. Cluster formation was impaired, though not abolished, in neurons expressing mutated subunits together with endogenous WT subunits. Consistent with this clustering deficit, single-molecule imaging revealed altered lateral diffusion of mutated channels. While WT channels remained largely immobile (stabilized), mutated forms exhibited intermittent diffusion punctuated by transient immobilization events. The percentage of stabilized trajectories was lower for mutated channels in the soma, dendrites and distal axons but not in the proximal portion of the axons. The differential diffusive behavior of WT and mutated channels was reproduced by diffusion-capture simulations considering channels with different numbers of PRC domains (i.e. heterotetramers with mutant subunits) and labile scaffolding interactions. Patch-clamp recordings revealed no significant difference in excitability between WT- and mutant-expressing neurons. However, we observed increased firing in both conditions compared to non-transfected neurons. Altogether, our results suggest that 1) mutated subunits form heterotetramers with endogenous WT subunits; 2) several PRC per channel are needed to efficiently immobilize Kv2.1 in large clusters; 3) increasing Kv2.1 channel expression level, independently of clustering, could drive neuronal hyperexcitability. - Source: PubMed
Publication date: 2026/09/09
Paupiah Anne-LiseGinisty MelvynGendre CapucineRusseau MarionMouktine ImaneLevi SabinePoncer Jean-ChristopheRenner Marianne - Urinary proteomic profiling (UPP) provides insights in disease mechanisms and origin of symptoms. Using UPP, this study aimed at deepening insight in the biology of exercise tolerance. - Source: PubMed
Publication date: 2026/07/30
Liu Chu-HaoMartens Dries SAn De-WeiSiwy JustynaLatosinska AgnieszkaPellicori PierpaoloVerdonschot Job A JAhmed Fozia ZWei Fang-FeiRossignol PatrickPetutschnigg JohannesHeymans StephaneCuthbert Joe JYu Yu-LingGirerd NicolasClark Andrew LVerhamme PeterZhang Dong-YanLi YanNawrot Tim SCleland John GZannad FaiezMischak HaraldStaessen Jan A - Obesity and related metabolic disorders represent a major global health burden, yet their genetic determinants remain incompletely characterized, particularly in non-European populations. We aimed to identify body mass index (BMI)-associated loci in an admixed Brazilian population and to functionally characterize ancestry-enriched variants contributing to obesity risk. - Source: PubMed
Publication date: 2026/05/07
Teixeira Samantha KuwadaLaurindo Caroline PanceraSato Fábio TakeoZuleta Luiz Fernando GodaDuarte Nubia EJensen Ana Vitória VPaço Samantha L GPereira Alexandre CSakabe NoboruNobrega MarceloKrieger Jose Eduardo - Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1-related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning. - Source: PubMed
Publication date: 2026/05/21
Scorrano GiovannaBreuillard DelphineThimon AnaisChemaly NicoleNabbout Rima - This systematic review aimed to summarize recent progress in precision medicine for all studied potassium gene variants related to epilepsy. It analyzed studies conducted in cell and animal models and in humans. - Source: PubMed
Publication date: 2026/04/16
Xie ChangningYin FeiKessi MiriamPeng Jing