SPCS_HUMAN SEPSECS ELISA tesk kit
- Known as:
- SPCS_HUMAN SEPSECS Enzyme-linked immunosorbent assay test tesk reagent
- Catalog number:
- gen14245
- Product Quantity:
- 1
- Category:
- Peptides
- Supplier:
- Other suppliers
- Gene target:
- SPCS_HUMAN SEPSECS ELISA tesk kit
Related genes to: SPCS_HUMAN SEPSECS ELISA tesk kit
- Gene:
- SEPSECS NIH gene
- Name:
- Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
- Previous symbol:
- -
- Synonyms:
- SLA/LP, SLA
- Chromosome:
- 4p15.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-05-01
- Date modifiied:
- 2018-07-30
Related products to: SPCS_HUMAN SEPSECS ELISA tesk kit
Related articles to: SPCS_HUMAN SEPSECS ELISA tesk kit
- Protein-altering gene variants in SEPSECS disrupt the biosynthesis of selenoproteins, leading to a spectrum of neurological diseases. - Source: PubMed
Publication date: 2026/08/14
Killam Benjamin YKnol Maria JFradejas-Villar NoeliaChillon Thilo SRuijter George J GBonte RamonAbdulwahab FirdousAldhalaan HeshamAlfaifi AbdullahAlkuraya Fowzan SAlsaif Hessa SKiernan Kaitlyn APuppala Anupama KBaker LauraBatten LeighChedrawi AzizaDempsey Jennifer CDoherty DanFaivre LaurenceGowda Vykuntaraju KHashem Mais OHeidari ErfanGarshasbi MasoudInaba YujiIwama KazuhiroKinali MariaKorinthenberg RudolfLesca GaetanMaroofian RezaMatsumoto NaomichiMazel BenoîtNelson Stanley FNeuteboom Rinze FNicolescu C RamonaOlson HeatherPoduri AnnapurnaSasaki MasayukiSchorling DavidSigner Rebecca HSrinivasan Varunvenkat MTamim AbdullahTavasoli Ali RTous EhabTyynismaa HennaVisser W EdwardVitobello AntonioVlachou VictoriaWilke MartinaAdams Hieab H HSchomburg LutzSchweizer UlrichSimonović MiljanDemirdas Serwet - Autoreactive CD4 T cells, which recognize liver self-antigens such as SepSecS, are potentially main drivers of the chronic inflammatory response during autoimmune hepatitis (AIH). Previous studies have revealed SepSecS epitopes often associated with HLA-DRB1∗03 or HLA-DRB1∗04 restriction, two alleles enriched in AIH population. However, human leukocyte antigen (HLA) restriction of numerous SepSecS epitopes remains incomplete, and whether they could be presented by non-HLA-DR molecules remains unclear. Here, we investigated epitope recognition and HLA restriction of SepSecS-specific CD4 T cells from AIH patients. - Source: PubMed
Publication date: 2026/08/11
Guinebretière ThomasGarcia AlexandraDong ChuangBernier LauraHuchet VirginieGavlovsky Pierre-JeanGil LaurineAdo SakinaDavid LéaChevalier CarolineJudor Jean-PaulClémenceau BéatriceKhaldi MarionBardou-Jacquet EdouardElkrief LaureLannes AdrienSilvain ChristineSchnee MatthieuTanne FlorenceLemoinne SaraDe Martin EleonoraPlessier AurélieVavasseur FabienneLaplaud David-AxelKwok William WBrouard SophieMosnier Jean-FrançoisGournay JérômeMilpied PierreConchon SophieRenand Amédée - Pontocerebellar hypoplasia (PCH) comprises a group of rare neurodevelopmental disorders characterized by prenatal-onset cerebellar and pontine atrophy, often leading to severe motor and cognitive impairments. While advances in genetic diagnostics have improved our understanding, the full spectrum of causative mutations remains unclear, particularly in underrepresented populations. This study aims to delineate the clinical and genetic characteristics of Iranian patients with PCH. We conducted comprehensive clinical evaluations, brain imaging, and laboratory tests, followed by whole-exome sequencing (WES) in Iranian patients with PCH to establish genotype-phenotype correlations. In silico structural and modeling analyses were performed to assess the impact of novel variants on protein function. Ten unrelated patients were diagnosed with different PCH subtypes. Microcephaly and spasticity were observed in 80% of cases, while hypotonia, psychomotor retardation, and speech problems were present in all patients. Additional features included nystagmus (40%), ataxia (20%), decreased deep tendon reflexes (50%), respiratory insufficiency (10%), feeding difficulties (30%), scoliosis (10%), cognitive deficits (20%), seizures (40%), and vision problems (10%). Genetic analysis identified eight pathogenic variants, including four reported mutations in RARS2, EXOSC3, and TSEN54, and four novel mutations in SEPSECS, and RARS2. A recurrent missense variant (EXOSC3: c.395 A > C) was detected in 40% of cases. This study expands the mutational spectrum of PCH by identifying novel variants and underscores the disorder's genetic heterogeneity. The clinical manifestations ranged from mild developmental delay to severe neurodevelopmental decline with respiratory insufficiency and seizures. Our findings provide valuable insights into genotype-phenotype correlations, facilitating early diagnosis and personalized management strategies. Additionally, these results contribute to genetic counseling and future functional studies to elucidate disease mechanisms. - Source: PubMed
Publication date: 2026/03/11
Rezaei ZahraEmami FarnooshHeidari MortezaMohammadi MahmoudYousefian MiladBadv Reza ShervinKowkabi SafouraMahdieh NejatAshrafi Mahmoud Reza - To explore the genetic etiology of Pontocerebellar Hypoplasia Type 2D (PCH2D) due to compound heterozygous variants of the SEPSECS gene and to conduct a literature review. - Source: PubMed
Xuan XiaoyanZhao XiaokeZhang Ling - The study explored the transcriptional regulation of selenoprotein synthesis-relevant genes, such as selenocysteine insertion sequence element binding protein 2 (sbp2), eukaryotic elongation factor (eefsec) and o-phosphoserine selenocysteine tRNA synthase (sepsecs), and their selenium-mediated regulation in yellow catfish Pelteobagrus fulvidraco, an important fish with ecological and economic importance in several Asian countries. We cloned the sequences of sbp2, eefsec and sepsecs promoters, spanning from -2060 bp to +61 bp, -1910 bp to +53 bp and - 1456 bp to +51 bp relative to the TSS, respectively. Through sequential deletion and mutation analysis of their promoters, we identified several functional binding sites: the signal transducer and activator of transcription 1 (STAT1) binding site (-1308 bp to -1322 bp) and the forkhead box protein O1 (FOXO1) binding site (-1778 bp to -1788 bp) in the sbp2 promoter; the FOXO1 binding site (-1070 bp to -1080 bp) and the STAT3 binding site (-428 bp to -436 bp) in the eefsec promoter; and the FOXO1 binding site (-721 bp to -731 bp) in the sepsecs promoter. The activity of these binding sites was regulated by selenomethionine (Se-Met) incubation. Furthermore, electrophoretic mobility shift assay and chromatin immunoprecipitation experiments confirmed that these binding sites interact with their corresponding transcription factors above. For the first time, we demonstrated that STAT1 and FOXO1 regulate transcriptional activity of sbp2 promoter; STAT3 and FOXO1 regulate transcriptional activity of eefsec promoter; and FOXO1 regulates transcriptional activity of sepsecs promoter. These findings provide novel insights into regulatory mechanisms of selenoprotein synthesis in yellow catfish. - Source: PubMed
Publication date: 2025/07/04
Zhang KaiYu An-GenZheng HuaLi Pei-JiaLuo Zhi