UNC13D Control Peptide
- Known as:
- UNC13D Control Peptide
- Catalog number:
- NB100-41385PEP
- Product Quantity:
- 0.1 mg
- Category:
- Peptides
- Supplier:
- ACR
- Gene target:
- UNC13D Control Peptide
Related genes to: UNC13D Control Peptide
- Gene:
- UNC13D NIH gene
- Name:
- unc-13 homolog D
- Previous symbol:
- -
- Synonyms:
- Munc13-4
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-16
- Date modifiied:
- 2019-04-23
Related products to: UNC13D Control Peptide
Related articles to: UNC13D Control Peptide
- Base editors enable precise correction of point mutations without requiring DNA double-strand breaks, yet platform- and cell type-specific genotoxicities remain incompletely characterized. Here, we applied cytosine base editing (CBE) to disrupt a cryptic splice-site mutation in the Unc13d locus of Jinx mice, a model of familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Efficient editing (62%-89%) in fibroblasts, T cells, and hematopoietic stem cells (HSCs) restored Unc13d splicing, reconstituted cytotoxic T cell function, and protected mice from virus-triggered hyperinflammation after transplantation of edited HSCs. Comparative genotoxicity profiling revealed distinct platform- and cell type-specific patterns: hyperactive CBE induced broader off-target activity and more structural variants than CRISPR-Cas9. Although off-target sequence edits persisted, the stability of CBE-induced chromosomal translocations differed between cell types. These findings establish base editing as a therapeutic strategy for a genetically predisposed hyperinflammatory syndrome and underscore the importance of context-specific safety profiling to guide the clinical translation of genome editors. - Source: PubMed
Publication date: 2026/05/13
Lei LeiKaufmann Masako MLao JessicaThoulass GudrunAmmann SandraXiao HuiRhiel ManuelDettmer-Monaco VivianeGrünewald JulianAndrieux GeoffroyAlzubi JamalMiller Bret RWeißert KristofferGräßel LindaSchell ChristophIllert Anna LJoung J KeithBoerries MelanieCornu Tatjana IEhl StephanErlacher MiriamAichele PeterCathomen Toni - To investigate the clinical and laboratory features, phenotypic characteristics, associated genes, and treatment strategies for adult primary hemophagocytic lymphohistiocytosis (HLH). - Source: PubMed
Publication date: 2026/04/17
Huang LeiGuo Shuli - The UNC13D gene encodes Munc13-4, a key regulator of cytotoxic granule exocytosis in effector immune cells, enabling the release of perforin and granzymes that are essential for cytotoxic function and immune surveillance. Loss-of-function mutations in UNC13D result in immune dysregulation syndromes, most notably familial hemophagocytic lymphohistiocytosis (fHLH, also referred to as FHL). This review provides a comprehensive overview of UNC13D, including its structural characteristics, biological functions, and spectrum of pathogenic variants. We summarize the mechanistic roles of Munc13-4 in granule-mediated cytotoxicity and examine the clinical correlations between UNC13D mutations and fHLH type 3 (FHL3). Furthermore, we discuss emerging evidence linking UNC13D dysfunction to a broader range of diseases, highlighting its clinical relevance and potential as both a diagnostic biomarker and therapeutic target. Overall, this review aims to bridge the gap between molecular mechanisms and clinical translation in UNC13D-related disorders. - Source: PubMed
Wang ZiqianChen ChongDuan ZhaojunWei ChongZhang WeiLuo YunpingZhou Daobin - Primary hemophagocytic lymphohistiocytosis (HLH) is mainly caused by biallelic variants in genes disrupting cytotoxic natural killer (NK) cell and T-cell function (PRF1, UNC13D, STX11, STXBP2, RAB27A, and LYST). A "pathway defect accumulation" model proposes that heterozygous variants in multiple familial hemophagocytic lymphohistiocytosis (FHL) genes (digenic or multigenic inheritance) may increase susceptibility, but its significance remains debated. We assessed the prevalence and clinical relevance of digenic/multigenic FHL genotypes in a German FHL cohort (1987-2023) and the UK Biobank (UKB; 469 589 participants). We analyzed (1) variants classified as disease mutations in the Human Gene Mutation database (HGMD); (2) common variants such as PRF1 p.Ala91Val and p.Asn252Ser; and (3) additional variants previously reported in digenic HLH and explored phenotypic associations using codes of the International Classification of Diseases, 10th Revision for possible HLH-related conditions. In the German cohort, among 635 individuals sequenced for >1 FHL gene, no symptomatic patient with abnormal NK/cytotoxic T-lymphocyte degranulation carried digenic/multigenic heterozygous variants. In UKB, 575 individuals carried digenic FHL genotypes (0.1% prevalence), without enrichment for HLH-associated phenotypes (odds ratio, 0.95; P = 1). Four individuals carried trigenic genotypes; none had HLH-related diagnoses. Several HGMD-labeled pathogenic variants were observed biallelically in asymptomatic adults, suggesting potential misclassification. Including PRF1 p.Ala91Val and p.Asn252Ser increased digenic variant carriers to 2590 but did not cause phenotype enrichment. Digenic heterozygous FHL variants are relatively common in the general population but do not confer increased FHL risk. Many reported pathogenic FHL variants may be benign. These findings argue against classifying multigenic heterozygous carriers as at risk and support integrating population data into variant interpretation. - Source: PubMed
Borisov OlegMann JasminWalz Kevin KimOyen FlorianLichtenfeld Helena ClaraLehmberg KaiKöttgen AnnaEhl StephanWegehaupt Oliver - Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy, with its pathogenesis closely associated with cellular states at various stages of differentiation. Existing clinical prognostic models often fail to account for this heterogeneity and lack integration of key molecular pathways. This study aimed to characterize AML differentiation-associated heterogeneity at the single-cell level, investigate the role of UNC13D in immune and dedifferentiation states, and develop a prognostic model integrating these features. - Source: PubMed
Publication date: 2026/02/25
Wang ZiqianZhou Daobin