Ask about this productRelated genes to: SEC23B Blocking Peptide
- Gene:
- SEC23B NIH gene
- Name:
- SEC23 homolog B, coat complex II component
- Previous symbol:
- CDAN2
- Synonyms:
- CDA-II, CDAII, HEMPAS
- Chromosome:
- 20p11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2000-01-07
- Date modifiied:
- 2019-04-23
Related products to: SEC23B Blocking Peptide
Related articles to: SEC23B Blocking Peptide
- Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease resulting from loss-of-function mutations in (). We have previously shown that increased expression of SEC23A, a paralogous protein for SEC23B, rescues the CDAII erythroid defect. Here, we generated a human erythroid cell line that expresses enhanced green fluorescent protein (eGFP) from the endogenous locus and performed a small-molecule screen to identify compounds that increased SEC23A-eGFP abundance. The top compound passing all filters was an inhibitor of lysine-specific demethylase 1 (LSD1). We found that LSD1 inhibition with RN1 resulted in increased SEC23A expression in erythroid cells derived from human hematopoietic stem and progenitor cells (HSPCs) at doses that did not impair erythroid cell growth or differentiation and rescued the erythroid defect resulting from deletion. Genetic down-regulation of led to a marked increase in mRNA expression in HSPC-derived erythroid cells. Deletion of in mouse erythroid cells resulted in increased expression, and RN1 treatment ameliorated the erythroid defect observed in a CDAII mouse model. Mechanistically, we found that LSD1 occupied a sequence in the promoter, repressing transcription. Deletion of the promotor sequence occupied by LSD1 resulted in increased SEC23A expression and amelioration of CDAII. These findings highlight that LSD1 represses transcription and that LSD1 inhibition results in de-repression of expression and amelioration of the CDAII erythroid defect, suggesting promising therapeutic strategies for CDAII. - Source: PubMed
Publication date: 2026/03/25
Yu LeiWang YuKing RichardMyers GreggoryDeng KaiwenMcGee BethFriedman AnnBalbin-Cuesta GinetteLin ZesenDrysdale ClaireLiu XiaofangMin Joseph CKerpet ClaireGuan YuanfangGallagher Patrick JOzel Ayse BilgeRobida AaronEngel James DouglasKhoriaty Rami - The uterus is a pivotal organ for mammalian reproduction, directly determining reproductive success by orchestrating embryo implantation, placental development, fetal nourishment, and parturition. However, the molecular mechanisms regulating high fecundity in the uterus across different stages of the estrous cycle remain unclear. This study aimed to elucidate the genetic regulation of goat fecundity through integrated proteomic and transcriptomic analyses of uterine tissues. - Source: PubMed
Publication date: 2026/02/21
Zou DongbinDu XiaolongLiu YufangFang MeiyingChu Mingxing - Hereditary anemias encompass a genetically heterogeneous spectrum of disorders, often involving multi-locus inheritance, which can complicate clinical management and worsen disease severity. This study investigates the impact of the co-inheritance of loss-of-function pathogenic variants, which lead to congenital dyserythropoietic anemia type II (CDA II), and gain-of-function pathogenic variants, associated with dehydrated hereditary stomatocytosis type I (DHS1), on hematological parameters and iron metabolism. Among 583 patients with suspected hereditary anemia, 13 were found to carry both and variants, leading to a dual diagnosis of CDA II and DHS1. Compared to those with isolated CDA II, these patients exhibited a significantly higher absolute reticulocyte count and bone marrow responsiveness index, alongside an increased prevalence of elevated ferritin levels. Functional studies in Hep3B human hepatoma cells confirmed that knockdown combined with gain-of-function led to marked ferritin accumulation and reduced hepcidin expression, driven by altered BMP/SMAD signaling and ERK1/2 MAPK pathway. These findings demonstrate how multi-locus inheritance can modify disease severity, particularly by exacerbating iron overload. Our results underscore the clinical relevance of comprehensive genetic testing for enhanced risk stratification and personalized management of hereditary anemias. - Source: PubMed
Publication date: 2026/01/23
Nostroso AntonellaMarra RobertaRosato Barbara EleniIscaro AnthonyEsposito Federica MariaD'Onofrio VanessaDionisi ManuelaRibersani MichelaGiordano FrancescaBulla AnnaDel Vecchio Giovanni CarloScianguetta SaverioMandrile GiorgiaCeglie TeresaScudiero OlgaFerrero Giovanni BattistaPerrotta SilverioIolascon AchilleAndolfo ImmacolataRusso Roberta - Hereditary anemias are a cause of nonimmune hydrops fetalis (NIHF). Our objective was to review the spectrum of hereditary anemia genes in NIHF diagnosed by exome sequencing (ES). - Source: PubMed
Publication date: 2026/02/03
Makhamreh Mona MRice Stephanie MShivashankar KavyaBrewer Casey JMcLaren Rodney ABerger Seth IAl-Kouatly Huda B - Hepatocellular carcinoma (HCC) is a prevalent and deadly cancer worldwide, characterized by poor prognosis, multiple therapeutic challenges, and considerable heterogeneity among patients with diverse etiologies. This heterogeneity contributes to resistance to chemotherapies and molecularly targeted agents, posing a major therapeutic challenge. Therefore, there is an increasing need for treatment strategies targeting HCC across various biological processes. miR-192-5p has been reported to function as a tumor suppressor in HCC, but its target genes remain largely unknown. In this study, we aimed to identify novel target genes of miR-192-5p in HCC using RNA sequencing and 3'-untranslated region analysis. As a result, eight genes-EFEMP1, DLG5, PPP1CA, FAM234B, RPL4, SEC23B, ELOVL1, and CBFB-were identified as novel target genes of miR-192-5p, all of which were significantly upregulated in HCC tissues. Notably, three genes-CBFB, SEC23B, and RPL4-were also validated as novel targets of miR-194-5p, which clusters with miR-192-5p. These findings suggest that miR-192-5p exerts its tumor-suppressive function by inhibiting a novel gene network that may contribute to HCC progression. This study provides new insights into the molecular mechanisms underlying HCC heterogeneity and highlights miR-192-5p-regulated networks as potential therapeutic targets for HCC. - Source: PubMed
Saito YoshifumiObayashi AkariIchikawa RihoIwasaki WakanaKato YuyaNinomiya KazumiInoue Yusuke