Ask about this productRelated genes to: KCTD17 antibody
- Gene:
- KCTD17 NIH gene
- Name:
- potassium channel tetramerization domain containing 17
- Previous symbol:
- -
- Synonyms:
- FLJ12242
- Chromosome:
- 22q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-08
- Date modifiied:
- 2015-08-28
Related products to: KCTD17 antibody
Related articles to: KCTD17 antibody
- Myoclonus-dystonia syndrome (MDS) is a clinically and genetically heterogeneous movement disorder characterized by myoclonus and dystonia as its core features. While mutations in the sarcoglycan gene (SGCE) account for most familial cases, heterozygous pathogenic variants in and have recently been described as novel genetic causes of MDS. e describe three patients from two Polish families presenting with progressive movement disorder combined with other features. Exome sequencing (ES) identified a novel heterozygous variant c.461 T > A, p.(Met154Lys) in a five-year-old girl with abnormal gait, postural instability, myoclonus, and tongue dyskinesia. In a 38-year-old woman and her 17-year-old daughter, both showing tremor, myoclonus, dystonia, and psychiatric symptoms, ES detected a heterozygous canonical splice-site c.1780-2A > G variant in . Neuropsychological evaluation suggested a gene-specific effect of on psychiatric and cognitive functioning, including significant episodic memory impairment. This study broadens the clinical and molecular spectrum of - and -related MDS and highlights distinctive features compared with -MDS, focusing on disease progression, treatment response, and neuropsychiatric involvement. Recognition of these patterns may guide molecular diagnosis and the management of specific MDS types. - Source: PubMed
Publication date: 2026/03/30
Krygier MagdalenaSitek Emilia JChylińska MagdalenaZiętkiewicz SzymonZawadzka MartaDulski JarosławSchinwelski MichałKostrzewa GrażynaWierzba JolantaPłoski RafałZech MichaelMazurkiewicz-Bełdzińska Maria - Myoclonus-dystonia (M-D) is a rare hyperkinetic movement disorder most commonly associated with mutations, while represents a less frequent but distinct genetic cause. - Source: PubMed
Publication date: 2026/04/09
Lin YunAoh YuLu Ming-Kuei - Growth and carcass traits are key economic traits in beef cattle production, and identifying their associated genetic markers is crucial for improving breeding efficiency. Charolais cattle, as a superior beef breed, exhibit excellent performance in growth rate and meat production. The aim of this study was to utilize the preferred high-coverage whole-genome resequencing (hcWGS) as a replacement for single nucleotide polymorphism (SNP) chips to identify significant SNPs and candidate genes associated with growth (body weight, body height, cross height, body length, and chest measurement across different growth stages) and carcass traits (live backfat thickness and eye muscle area at 18 months) in 240 Charolais cattle, thereby providing guidance for beef cattle breeding. Through hcWGS (approximately 13× coverage) and quality control, 4,088,633 SNPs were identified and subsequently used for genetic analyses. Through FarmCPU-based genome-wide association studies, 196 potentially significant SNPs associated with growth traits and 29 SNPs with carcass traits were identified. Annotation analyses revealed 353 candidate genes (such as RBM33, KCTD17, PTHLH, RAC2, CHD6, TRDN, WBP1L, TLL2, CH25H, and ST13) linked to growth traits and 26 candidate genes linked to carcass traits (such as CHST11, LRRK2, RIOK2, and INTS10). Additionally, three SNPs (g.8674692C>G, g.54418624G>T, and g.71085551G>A) were validated via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), enabling efficient marker-assisted selection. Furthermore, eight SNPs in the Acyl-CoA oxidase 1 (ACOX1) gene were found to be associated with growth and backfat thickness traits. These findings provide valuable preliminary insights into the genetic mechanisms underlying growth and carcass traits in Charolais cattle, facilitating genome-assisted breeding. - Source: PubMed
Publication date: 2025/11/25
Zhang FengWang ChengmeiShangguan AishaoSuo XiaojunChen MengjieTao HuJiang FanXu TianZhang NianHua ZaidongChai JinXiong Qi - Metabolic dysfunction-associated steatohepatitis (MASH) is a leading cause of chronic liver disease. Available therapies show inconsistent results on fibrosis, probably due to heterogeneity in disease trajectory or incomplete understanding of molecular determinants. Here we identified increased KCTD17 levels in patients with MASH, and in dietary rodent models of MASH-such as those fed a diet high in palmitate, sucrose and cholesterol coupled with fructose-containing drinking water or a choline-deficient, L-amino acid-defined, high-fat diet-which showed an inverse correlation with the expression of serine protease inhibitor a3k (SERPINA3 in humans, Serpina3k in mice). KCTD17 depletion increased SERPINA3 levels and reduced liver fibrosis in mice fed a MASH-inducing diet by inhibiting Par2/TGFβ-mediated activation of hepatic stellate cells. Mechanistically, Kctd17 regulates Serpina3k expression by facilitating the ubiquitin-mediated degradation of Zbtb7b, which in turn diminishes Serpina3k secretion. Consequently, pharmacological inhibition of Kctd17 effectively reverses MASH-induced liver fibrosis. In summary, these findings underscore the therapeutic potential of targeting KCTD17 for the treatment of MASH-induced liver fibrosis. - Source: PubMed
Publication date: 2025/08/01
Jeong YelinOh Ah-ReumJung Young HoonJung Kyung HeeLee SeongjuCarrer MicheleLee Sang BaeValenti LucaPajvani Utpal BKim KyeongJin - The development and progression of Hepatocellular Carcinoma (HCC) is more relevant to immune regulation. Therefore, there is an urgent need to find immune-related molecular markers that can predict the prognosis and immune status of HCC. - Source: PubMed
Publication date: 2024/12/27
Chen YingYin DianFeng XiuHe ShennanZhang LiangChen Dongqin