🧬 基因注释：SLC10A2
📝 官方信息
官方名称：solute carrier family 10 member 2
功能摘要：This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录