22 thg 5, 2022 · This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes ...
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16 thg 4, 2015 · G6PC3 deficiency is highly variable in its severity and associated clinical features. Individuals with "nonsyndromic" disease have only severe ... Diagnosis · Clinical Characteristics · Differential Diagnosis · Management
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6 thg 6, 2022 · G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3) is a Protein Coding gene. Diseases associated with G6PC3 include Neutropenia, ...
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Glucose-6-phosphatase (G6Pase) is located in the endoplasmic reticulum (ER) and catalyzes hydrolysis of G6P to glucose and phosphate, the last step of the ...
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14 thg 11, 2014 · The G6PC3 protein is a paralog of G6PC with which it shares 36% sequence identity [3]. Since the G6PC3 protein structure is not well defined, ...
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23 thg 10, 2017 · G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital ...
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Glucose-6-phosphatase 3 · Homo sapiens (Human) · EC:3.1.3.9 · Gene: G6PC3 (UGRP) · 346 amino acids · Evidence at protein level · Annotation score:5/5.
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This syndrome is an autosomal recessive form of SCN caused by biallelic mutant G6PC3. Wild-type G6PC3 encodes glucose-6-phosphatase catalytic subunit 3, which, ...
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1 thg 1, 2009 · Of these, G6PC3, which encodes glucose-6-phosphatase, catalytic subunit 3, and is located in the narrowest possible linkage interval, was a ...
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Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ... Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular ...
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G6PC3 (UGRP) protein expression summary. ... Gene name, G6PC3 (HGNC Symbol). Synonyms, UGRP. Description, Glucose-6-phosphatase catalytic subunit 3 (HGNC ...
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1 thg 12, 2020 · A new effect of the mutations in G6PC3 found in our patient's neutrophils is the inhibition of hexokinase. ... The findings support the dual role ...
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