🧬 基因注释：TBX19
📝 官方信息
官方名称：T-box transcription factor 19
功能摘要：This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.424 · 证据 2 条
- Tardbp 综合评分: 0.386 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- CPSF6 综合评分: 0.248 · 证据 2 条
- AQR 综合评分: 0.150 · 证据 1 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- CPSF3 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录