Gene Symbol | G6PC3 |
Entrez Gene ID | 92579 |
Full Name | glucose-6-phosphatase catalytic subunit 3 |
Synonyms | SCN4,UGRP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neutropenia, severe congenital 4, autosomal recessive, 612541 (3); Dursun syndrome, 612541 (3) |