🧬 基因注释：UNC13D
📝 官方信息
官方名称：unc-13 homolog D
功能摘要：This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- PABPC4 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM22 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录