G6PC

GENE INFORMATION

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Gene name

G6PC (HGNC Symbol)

Synonyms

G6PT, GSD1a

Description

glucose-6-phosphatase, catalytic subunit (HGNC Symbol)

Entrez gene summary

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]

Chromosome

17 (Chromosome progress)

Cytoband

q21.31

Chromosome location (bp)

41052814 - 41065386

Ensembl

ENSG00000131482 (version 73.37)

Entrez gene

2538

UniProt

P35575 (UniProt - Evidence at protein level)

neXtProt

NX_P35575

Antibodypedia

G6PC antibodies
 

PROTEIN VIEW

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G6PC-001
 
G6PC-002
 
G6PC-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

G6PC-001 ENSP00000253801
ENST00000253801
P35575
Show all »
Show » Show » 357 40.5 No 8
G6PC-002 ENSP00000465958
ENST00000592383
K7EL82
Show all »
Show » 176 20.2 No 3
G6PC-003 ENSP00000466202
ENST00000585489
K7ELS6
Show all »
Show » Show » 163 19 No 3