🧬 基因注释：DLK1
📝 官方信息
官方名称：delta like non-canonical Notch ligand 1
功能摘要：This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- NOVA1 置信度: 2.0
- PABPC4 置信度: 2.0
- PCBP1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM20 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- Nova2 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录