Entrez 92579 | Ensembl ENSG00000141349 | |
Aliases G6PC3, SCN4, UGRP, glucose 6 phosphatase catalytic subunit 3, glucose-6-phosphatase catalytic subunit 3 External IDs MGI: 1915651 HomoloGene: 16304 GeneCards: G6PC3 | ||
Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.
Contents
Function
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.
Clinical significance
Mutations in this gene result in autosomal recessive severe congenital neutropenia.
References
G6PC3 Wikipedia(Text) CC BY-SA