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Literature summary for 3.1.3.9 extracted from

  • Chou, J.Y.; Mansfield, B.C.
    Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease (2008), Hum. Mutat., 29, 921-930.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
D38V the mutation leads to reduced levels of G6PC protein Homo sapiens
E110Q the mutation retains 16% of wild type activity Homo sapiens
F322L mutant has similar stability to wild type enzyme Homo sapiens
F327del/V338F/I341N/L345R the mutation leads to reduced levels of G6PC protein Homo sapiens
G122D mutant has similar stability to wild type enzyme Homo sapiens
G188D/G188S/G188R the mutation leads to reduced levels of G6PC protein Homo sapiens
G222R the mutation retains 2.6% of wild type activity Homo sapiens
G350X the mutation retains 41.5% of wild type activity Homo sapiens
H119L the mutation completely abolishes enzymatic activity Homo sapiens
H353X the mutation retains 60% of wild type activity Homo sapiens
K355X the mutation retains 65% of wild type activity Homo sapiens
K76N the mutation completely abolishes enzymatic activity Homo sapiens
L349X the mutation retains 5.3% of wild type activity Homo sapiens
N264K/L265P/G266V/G270V/G270R the mutation leads to reduced levels of G6PC protein Homo sapiens
P257L the mutation retains 6.1% of wild type activity Homo sapiens
Q347X the mutation completely inactivates the G6PC enzyme Homo sapiens
Q351X the mutation retains 43% of wild type activity Homo sapiens
R170Q the mutation completely abolishes enzymatic activity Homo sapiens
R170X the mutation completely inactivates the G6PC enzyme Homo sapiens
R295C/S298P the mutation leads to reduced levels of G6PC protein Homo sapiens
R83C the mutation completely abolishes enzymatic activity Homo sapiens
R83H the mutation completely abolishes enzymatic activity Homo sapiens
V166A the mutation leads to reduced levels of G6PC protein Homo sapiens
W63R/G68R the mutation leads to reduced levels of G6PC protein Homo sapiens
Y209C/L211P/G222R the mutation leads to reduced levels of G6PC protein Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
Homo sapiens 5737
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P35575
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein
-
Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
D-glucose 6-phosphate + H2O
-
Homo sapiens D-glucose + phosphate
-
?

Synonyms

Synonyms Comment Organism
G6PC
-
Homo sapiens
glucose-6-phosphatase-alpha
-
Homo sapiens