🧬 基因注释：SLC12A3
📝 官方信息
官方名称：solute carrier family 12 member 3
功能摘要：This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- EIF4A3 综合评分: 0.162 · 证据 2 条
- ACIN1 综合评分: 0.150 · 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
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- U2af2 综合评分: 0.100 · 证据 1 条
- UPF1 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