G6PC3
Function
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.
Involvement in disease
Neutropenia, severe congenital 4, autosomal recessive
SCN4
A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
None
The disease is caused by variants affecting the gene represented in this entry.
Dursun syndrome
DURSS
A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate biosynthesis; gluconeogenesis.
Sequence Similarities
Belongs to the glucose-6-phosphatase family.
Tissue Specificity
Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
UGRP, G6PC3, Glucose-6-phosphatase 3, G-6-Pase 3, G6Pase 3, Glucose-6-phosphatase beta, Ubiquitous glucose-6-phosphatase catalytic subunit-related protein, G6Pase-beta