菜单 基因医生

该基因编码葡萄糖-6-磷酸酶（G6Pase）的催化亚单位G6Pase位于内质网（ER）中，在糖异生和糖原分解途径的最后一步催化葡萄糖-6-磷酸水解为葡萄糖和磷酸盐该基因突变导致常染色体隐性遗传的严重先天性中性粒细胞减少症。选择性剪接导致多个转录变体[由RefSeq提供，2016年2月]
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]