🧬 基因注释：G6PC3
📝 官方信息
官方名称：glucose-6-phosphatase catalytic subunit 3
功能摘要：This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录