Unc13d
- Known as:
- Unc13d
- Catalog number:
- 059419A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Unc13d
Related genes to: Unc13d
- 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
Related articles to: Unc13d
- This retrospective study aimed to investigate the clinical characteristics, management, and prognosis of pediatric malignancy-associated hemophagocytic lymphohistiocytosis (M-HLH). - Source: PubMed
Publication date: 2026/05/07
Huang ChengshuangHuang JiaLe QuZhou Yan - Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome frequently involving the central nervous system (CNS) and associated with poor outcomes. Neurological manifestations may precede or obscure systemic features, resulting in diagnostic challenges. - Source: PubMed
Publication date: 2026/04/30
Jang SeoyunKim Hye JinCha Jong HoKim JiminYoon HeejeongKim WoojoongChoi Jung YoonKang Hyoung JinKim Man JinKim Soo YeonChae Jong-Hee - 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