🧬 基因注释：HAO1
📝 官方信息
官方名称：hydroxyacid oxidase 1
功能摘要：This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录