KCTD3 belongs to the KCTD3 family. It contains 1 BTB (POZ) domain and 5 WD repeats.The exact function of KCTD3 is not known.
- Known as:
- KCTD3 belongs KCTD3 family. contains 1 BTB (POZ) domain 5 WD repeats.The exact function KCTD3 known.
- Catalog number:
- 25-250
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- KCTD3 belongs the family. contains 1 BTB (POZ) domain and 5 repeats.The exact function not known.
Related genes to: KCTD3 belongs to the KCTD3 family. It contains 1 BTB (POZ) domain and 5 WD repeats.The exact function of KCTD3 is not known.
- Gene:
- ABTB1 NIH gene
- Name:
- ankyrin repeat and BTB domain containing 1
- Previous symbol:
- -
- Synonyms:
- BPOZ, EF1ABP, Btb3, BTBD21
- Chromosome:
- 3q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-03-14
- Date modifiied:
- 2016-10-05
- Gene:
- KCTD3 NIH gene
- Name:
- potassium channel tetramerization domain containing 3
- Previous symbol:
- -
- Synonyms:
- NY-REN-45
- Chromosome:
- 1q41
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-03
- Date modifiied:
- 2014-11-19
Related products to: KCTD3 belongs to the KCTD3 family. It contains 1 BTB (POZ) domain and 5 WD repeats.The exact function of KCTD3 is not known.
"Fish_tail" soft stirring disc for 0.4, 1, 3 and 7l reactor"Fish_tail" soft stirring disc for 0.4, 1, 3 and 7l reactor, modified geometry and material for softer stirring"Two-in-One Image Scanner for Microscope Slides, Filmstrips/Film Slides
Specifically designed for converting microscope slides and films/film slides into digital data formats with high resolution"'Enduroä PAGE 2D System, includes 2D insert and PAGE System components'Enduroä PAGE Electroblotting System, includes the blotting insert and PAGE system components'VX-200 Vortex Mixer Optional head attachment for 24 x 1.5/2.0 ml tubes, 24 x 0.5 ml tubes and 32 x 0.2 ml tubes (or 4 tube strips)'VX-200 Vortex Mixer Optional head attachment for 8 x 15 ml and 8 x 12/13 mm diameter tubes(+__)_Camphene contains ca 20% rich cy(-)-(2R,5R)-2,5-Dimethylpyrrolidine, Hydrochloride, 90% (contains meso-isomer) C6H14ClN CAS: 70144-18-2 (-)-(2R,5R)-2,5-Dimethylpyrrolidine, Hydrochloride, 90% (contains meso-isomer) CAS: 70144-18-2 Formula: C6H14ClN(10) Base holders and cases(1’S,2'S)-Nicotine 1'-Oxide and (1’R,2'S)-Nicotine 1'-Oxide Mixture C10H14N2O CAS:(1’S,2'S)-Nicotine 1'-Oxide and (1’R,2'S)-Nicotine 1'-Oxide Mixture CAS: Formula: C10H14N2O(5) Base holders and cases
(5HCG-HCG ELISA, Fertility and pregnancy Related articles to: KCTD3 belongs to the KCTD3 family. It contains 1 BTB (POZ) domain and 5 WD repeats.The exact function of KCTD3 is not known.
- Pathogenic variants in human KCTD3 are associated with severe neurodevelopmental disorders characterized by early-onset seizures, developmental delay, hypotonia, and cerebellar hypoplasia, but the underlying mechanisms remain unclear. Here we show that KCTD3 regulates neuronal structural organization through DAAM1, a protein involved in actin cytoskeleton assembly. In Kctd3-deficient neurons, DAAM1 protein levels are reduced, the axon initial segment is abnormally organized, and neurite growth and growth cone morphology are impaired. These defects are rescued by DAAM1 overexpression. Systemic Kctd3 depletion also disrupts axon initial segment organization and motor axon innervation at neuromuscular junctions, leading to motor dysfunction and growth impairment in mice. These findings identify a KCTD3-DAAM1 pathway required for neuronal structural development and provide a framework for understanding how KCTD3 deficiency contributes to neurodevelopmental disorders. - Source: PubMed
Publication date: 2026/07/07
Oh YeonsooLee YounghaJin HoyongScala MarcelloCapra ValeriaTorella AnnalauraNigro VincenzoIsidor BertrandMau-Them Frédéric TranFeichtinger René GMayr Johannes AWortmann Saskia BKim HyeyoonHan DohyunLee Jin SookChae Jong-HeeChoi MurimCho Yongcheol - The patient-derived primary cell line (PDC) exhibits similar biological characteristics to the original tumor tissue, and is a unique translational medicine tool for studying the growth, differentiation, metastasis and drug sensitivity of malignant tumor cells. However, due to the limited number of PDC models of gallbladder cancer (GBC) and the high genetic heterogeneity of GBC, it is necessary to establish PDC models representing different types of GBC patients. The aim of this study is to establish GBC PDCs and characterize their biological features, which can be used as preclinical models for GBC. - Source: PubMed
Publication date: 2025/09/25
Feng FeilingZhu MinghuiFeng YanXu XiaoyaNian BaoningLi ZhikuanChen ShengLi XiaofangXie ZhenghuaZhang DadongWang XiangyuJiang Xiaoqing - A ketogenic diet is used in children with drug-resistant epilepsy but predictors for efficacy are largely lacking. Our aim was to evaluate if causative genetic variants could predict seizure response to the ketogenic diet. A cohort study of 226 children with refractory epilepsy and classic ketogenic diet treatment for at least 3 months (76.9% of the 294 who started) was performed. The median age at diet start was 5.1 years (range 0.1-17.8), 118 were girls and 108 boys. They had previous trials of a median of 6.0 anti-seizure medications (range 0-12) and intellectual disability was found in 87%. Seizure response (≥50% reduction) was found in 138/226 patients (61.1%) at 3 months, 121 (53.5%) at 6 months, 107 (47.3%) at 1 year and in 80 (37.0%) at 2 years follow-up of ketogenic diet. Age of epilepsy onset was lower and combined epilepsy type less common in responders compared to non-responders but no differences were found for specific seizure types, ketogenic ratio or beta-hydroxybutyric acid blood levels. A causative pathogenic/likely pathogenic variant was detected in 107/153 = 69.9% in 48 different genes. Next generation sequencing was used in 91/226 (40%) cases with a diagnostic yield of 58.2% (53/91). In comparison with cases without a revealed genetic aetiology, patients with a causative genetic variant had less atonic seizures and epileptic spasms and a better seizure response with 17.3% seizure free and 25% with >90% seizure reduction at 2-year follow-up. Causative variants in , , and showed significant diet response ( < 0.05) and good efficacy was also associated with , , , , and . Causative variants in and were among genes linked to a lack of response. To our knowledge not described previously, we report a good ketogenic diet response related to causative variants in , , , , , , and but a lack of response for causative variants in , , , , , , , and After grouping of genes into functional groups, causative variants in transporter genes had the best response ( = 0.009) and variants in other membrane-related proteins (ion channels and neurotransmitter receptors) also showed good efficacy. However, the gene group related to cell structural integrity and/or homeostasis had the worst diet response ( = 0.00006). In conclusion, our results support that causative genetic variants may be used as prognostic markers of ketogenic diet response, constituting an example in the expanding area of precision medicine. - Source: PubMed
Publication date: 2025/04/05
Dahlin MariaStödberg TommyEkman ElinTöhönen VirpiWedell Anna - Many cellular processes are regulated by proteasome-mediated protein degradation, including regulation of signaling pathways and gene expression. Among the pathways regulated by the ubiquitin-proteasome system is the Hedgehog pathway and its downstream effectors, the Gli transcription factors. Here we provide evidence that proteasomal activity is necessary for maintaining the activation of the Hedgehog pathway, and this crucial event takes place at the level of Gli proteins. We undertook extensive work to demonstrate the specificity of the observed phenomenon by ruling out the involvement of primary cilium, impaired nuclear import, failed dissociation from Sufu, microtubule stabilization, and stabilization of Gli repressor forms. Moreover, we showed that proteasomal-inhibition-mediated Hedgehog pathway downregulation is not restricted to the NIH-3T3 cell line. We demonstrated, using CRISPR/Ca9 mutagenesis, that neither Gli1, Gli2, nor Gli3 are solely responsible for the Hedgehog pathway downregulation upon proteasome inhibitor treatment, and that Cul3 KO renders the same phenotype. Finally, we report two novel E3 ubiquitin ligases, Btbd9 and Kctd3, known Cul3 interactors, as positive Hedgehog pathway regulators. Our data pave the way for a better understanding of the regulation of gene expression and the Hedgehog signaling pathway. - Source: PubMed
Publication date: 2024/09/06
Uśpieński TomaszNiewiadomski Paweł - A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain structural abnormalities. The patient showed isodisomy of chromosome 1, where KCTD3 is located, and the father was heterozygous for the same variant. Based on these findings, paternal uniparental disomy was considered to cause the biallelic involvement of KCTD3. - Source: PubMed
Publication date: 2023/08/07
Shimojima Yamamoto KeikoYoshimura AyumiYamamoto Toshiyuki