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 anemias (CDAs) include a heterogeneous group of conditions characterized by insufficient erythropoiesis giving rise to monolinear cytopenia. Based on the morphological features of erythroblasts, three major subtypes have been established: CDA Type I, CDA Type II, and CDA Type III. CDA Type II is the most common type of CDAs, and this disease is characterized by a normocytic anemia with a normal or slightly increased reticulocyte count. The bone marrow is hypercellular with erythroid hyperplasia and binucleated erythroblasts with two nuclei at the same maturation stage. The inheritance is autosomal recessive, and the disease is caused by biallelic mutations in the gene. More than 100 pathogenetic variants have been identified. Here, we report on three patients from Somalia with CDA Type II caused by a new sequence variant. They came to attention and were diagnosed in early adulthood. Cases 1 and 2 had mild anemia with signs of hemolysis, and Case 3 had mild anemia with reticulocytosis. The eosin-5-maleimide binding test showed reduced binding in all three patients. Molecular genetics disclosed homozygosity for the sequence variant NM_006363.6:c.1580T > C p.(Leu527Ser) in the gene. A bone marrow aspirate was performed from Case 2, and the smear disclosed morphological abnormalities typical for CDA Type II. - Source: PubMed
Publication date: 2026/09/02
Tjønnfjord Geir ErlandLoraas ArneSpetalen SigneOsnes Liv Toril NygårdTveten Kristian - Congenital dyserythropoietic anemia type II (CDA II) is a rare hyporegenerative inherited anemia, resulting from a mutation in . In the present case, our patient exhibited moderate anemia, jaundice, hepatosplenomegaly, tea-colored urine, hyperbilirubinemia, and iron overload. Whole exome sequencing revealed that the patient carried a compound heterozygous genotype in consisting of a previously unreported missense variant c.181T > C (p.C61R) and a known pathogenic variant c.1832G > A (p.R611Q). Bone marrow aspirate demonstrated erythroid hyperplasia with abnormal erythroblast morphology. Bioinformatic analysis predicted the protein structures, indicating that p.C61R and p.R611Q mutations induce structural changes in their surrounding regions. mRNA and protein levels in peripheral blood mononuclear cells (PBMCs) were significantly reduced compared with those in normal control cells, supporting their pathogenicity. Accordingly, a diagnosis of CDA II was considered. In this study, we identified a compound heterozygous genotype in the patient and demonstrated that missense mutations of p.C61R and p.R611Q resulted in reduced levels of SEC23B mRNA and protein, suggesting the association of this genotype with CDA II. - Source: PubMed
Publication date: 2026/08/03
Li Ya-FangHuang Ti-LongZhang Tian-YaoSong Chun-YanShi Zhong-YuLin Yun-BiZhang Xian-Wen - Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders. - Source: PubMed
Publication date: 2026/07/13
Jin XianghongLi YixuanLiu YapingJiang XianyongZhuang JunlingShen MinChen Miao - Cervical cancer (CC) is one of the most common cancer types affecting women globally. Cervical cancer is largely associated with human papillomavirus infections; however, approximately 5% to 11% of CC cases are non-human papillomavirus virus-related. Malawi has the second highest CC prevalence and mortality rate worldwide. - Source: PubMed
Publication date: 2026/05/15
Gwayi Samuel DTomoka TamiweChimusa Emile RFedoriw GeorgeKumwenda Benjamin - Salmonella infects a wide range of hosts, causing gastroenteritis or systemic infection in humans and animals, highlighting the urgent need for a deeper understanding of its pathogenesis. SpvC, a critical virulence determinant of salmonella, facilitates bacterial dissemination. Gasdermin D (GSDMD) is the only gasdermin known to protect mice against acute enteritis. Our preliminary findings indicated that SpvC counteracts GSDMD-mediated antibacterial effects to enhance bacterial dissemination, although its functional relevance to epithelial-derived GSDMD and the underlying mechanisms remain unclear. To address this, C57BL/6J and wild-type mice were infected with Typhimurium (. Typhimurium) wild-type strain and deletion mutant. Our results demonstrate that SpvC compromises intestinal epithelial barrier integrity, overcoming GSDMD-mediated protection against systemic infection. Specifically, through bioinformatics analysis, LC-MS/MS, and in vivo experiments with Caco-2 cell monolayers and site-directed mutants, we identified SEC23B as a novel target of SpvC. This interaction disrupts the intestinal epithelial barrier through the autophagy-pyroptosis pathway. This study identifies SEC23B as a unique cellular target of SpvC involved in GSDMD activation during . Typhimurium systemic infection. It also reveals a novel mechanism by which Salmonella evades host defense mechanisms. - Source: PubMed
Publication date: 2026/05/19
Zhou LitingYang YanKang LiYou JiayiWang YeXu AilingTu GuangminHuang RuiZhou ZhengyuLi MinghuiWu Shuyan