🧬 基因注释：CHIT1
📝 官方信息
官方名称：chitinase 1
功能摘要：Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012].
🎯 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