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G6PC3 encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). Additionally we are shipping G6PC3 Antibodies (20) and G6PC3 Proteins (3) and many more products for this protein.
classic features of SCN (show SRI ELISA Kits) IV found to share an identical inherited canonical splice-site mutation of the G6PC3 gene (c.218+1G>A).
Multilineage involvement of immune system occurs in G6PC3 deficiency in addition to the previously described neutropenia and multiple abnormalities.
G6PC3 defects should be considered in any case of congenital, unexplained neutropenia regardless of the clinical phenotype.
functional characterization of 16 of the 19 known missense mutations in severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency;14 missense mutations completely abolish G6Pase-beta activity while the p.S139I and p.R189Q mutations retain 49% and 45%, respectively of wild type activity
Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity.
A role for G6PC3 in testicular differentiation and formation.
G6PC3 mutation is associated with severe congenital neutropenia.
Glucose 6 phosphatase catalytic subunit-3 deficiency due to mutation is a heterogenous disorder characterized by severe congenital neutropenia.
Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects.
review of clinical, molecular and genetic aspects of G6PC3 deficiency; loss of function in missense G6PC3 mutations likely results from decreased enzyme stability; the condition can be diagnosed by sequencing G6PC3 gene; a number of G6PC3 ounder mutations are known in various populations and possible genotype-phenotype relationship also exists
Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-beta (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.
G-CSF (show CSF3 ELISA Kits) improves G6pc3(-/-) neutrophil survival by modulating apoptotic mediators and rectifies function by enhancing energy homeostasis.
in nonapoptotic neutrophils, G6PC3 is essential for normal energy homeostasis. A G6PC3 deficiency prevents recycling of ER glucose to the cytoplasm, leading to neutrophil dysfunction
UGRP/G6Pase (show G6PC ELISA Kits) is the major glucose-6-phosphatase (show G6PC ELISA Kits) of physiological importance for glucose homeostasis in vivo.
The absence of G6Pase-beta led to neutropenia
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. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.
, G6Pase 3
, glucose-6-phosphatase 3
, glucose-6-phosphatase catalytic subunit 3
, ubiquitous glucose-6-phosphatase catalytic subunit-related protein
, ubiquitously expressed G6Pase catalytic subunit-related protein
, glucose-6-phosphatase catalytic subunit-related