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 ... See more...

Aliases for G6PC Gene

Aliases for G6PC Gene

  • Glucose-6-Phosphatase Catalytic Subunit 2 3 5
  • Glucose-6-Phosphatase Alpha 3 4
  • Glucose-6-Phosphatase 3 4
  • G6Pase-Alpha 3 4
  • EC 3.1.3.9 4 51
  • G-6-Pase 3 4
  • G6Pase 3 4
  • G6PC1 2 3
  • GSD1a 2 3
  • G6PT 3 4
  • Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) 2
  • Glycogen Storage Disease Type I, Von Gierke Disease 2
  • GSD1 3
  • G6PC 5

External Ids for G6PC Gene

Previous HGNC Symbols for G6PC Gene

  • G6PT

Previous GeneCards Identifiers for G6PC Gene

  • GC17M040566
  • GC17P043214
  • GC17P040961
  • GC17P041425
  • GC17P038306
  • GC17P041052
  • GC17P036817

Summaries for G6PC Gene

Entrez Gene Summary for G6PC Gene

  • 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]

GeneCards Summary for G6PC Gene

G6PC (Glucose-6-Phosphatase Catalytic Subunit) is a Protein Coding gene. Diseases associated with G6PC include Glycogen Storage Disease Ia and Hypoglycemia. Among its related pathways are Glucose metabolism and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.

UniProtKB/Swiss-Prot Summary for G6PC Gene

  • Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Gene Wiki entry for G6PC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for G6PC Gene

Genomics for G6PC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for G6PC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042900 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 +1.3 1305 3.8 GATAD2A REST TFE3 SOX13 RCOR2 RXRB IRF2 SP1 GABPA PBX2 G6PC DHX58 NAGLU lnc-G6PC-1 AARSD1
GH17J042878 Enhancer 1 Ensembl ENCODE 13.2 -22.4 -22397 1.2 GATAD2A TFE3 NFKBIZ RCOR2 RXRB SP1 CEBPA MNT SOX13 ESR1 lnc-AOC3-3 LINC00671 G6PC AOC3 AOC2 RNU6-287P
GH17J042928 Enhancer 1 ENCODE 13.3 +28.3 28271 1.8 GATAD2A CTCF PRDM10 LEF1 IKZF1 RCOR2 ZNF7 BACH1 JUND MTA2 G6PC LINC00671 RNU6-287P AOC3 AOC2 CNTD1 COA3 VPS25 RAMP2-AS1 HMGN2P15
GH17J042855 Enhancer 0.9 Ensembl dbSUPER 12 -45.3 -45296 1 GATAD2A ATF7 RXRB SP1 GABPA CEBPA SOX13 TAF1 ETS1 KAT7 RNU6-287P LINC00671 G6PC AOC4P AOC3 lnc-AOC3-2
GH17J042897 Promoter/Enhancer 1 EPDnew ENCODE 0.7 -2.1 -2140 1.5 GATAD2A RXRB CEBPA ZKSCAN8 MAFK ZNF205 KDM6A FOXP1 SAP130 MXD4 LINC00671 AOC4P G6PC RNU6-287P AOC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around G6PC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for G6PC

Top Transcription factor binding sites by QIAGEN in the G6PC gene promoter:
  • C/EBPalpha
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for G6PC Gene

Genomic Locations for G6PC Gene
chr17:42,900,797-42,914,438
(GRCh38/hg38)
Size:
13,642 bases
Orientation:
Plus strand
chr17:41,052,814-41,065,386
(GRCh37/hg19)
Size:
12,573 bases
Orientation:
Plus strand

Genomic View for G6PC Gene

Genes around G6PC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC Gene

Proteins for G6PC Gene

  • Protein details for G6PC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35575-G6PC_HUMAN
    Recommended name:
    Glucose-6-phosphatase
    Protein Accession:
    P35575
    Secondary Accessions:
    • A1L4C0
    • B4E1C3
    • K7EL82

    Protein attributes for G6PC Gene

    Size:
    357 amino acids
    Molecular mass:
    40484 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG64735.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for G6PC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PC Gene

Selected DME Specific Peptides for G6PC Gene

P35575:
  • LSFCKSA
  • TCETGPGSPSGHAMG
  • WVAVIGDW
  • PTYRFRCLN
  • GFYLLLKGLGVDLLWTLEKA
  • DTTPFASL
  • LVSVIADLRNAFYVLFPIWFH
  • VPLASVS
  • AGVYYVMVTSTL
  • GLGLALNSSMYR
  • FKWILFG
  • DTDYYSN
  • FDSLKPPSQ
  • AHFPHQV
  • LHDFGIQST

Post-translational modifications for G6PC Gene

  • Glycosylation at Asn96
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for G6PC Gene

Domains & Families for G6PC Gene

Gene Families for G6PC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for G6PC Gene

InterPro:
Blocks:
  • PA-phosphatase related phosphoesterase
ProtoNet:

Suggested Antigen Peptide Sequences for G6PC Gene

GenScript: Design optimal peptide antigens:
  • Glucose-6-phosphatase alpha (G6PC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35575

UniProtKB/Swiss-Prot:

G6PC_HUMAN :
  • Belongs to the glucose-6-phosphatase family.
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC: view

Function for G6PC Gene

Molecular function for G6PC Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9;.
GENATLAS Biochemistry:
glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway

Enzyme Numbers (IUBMB) for G6PC Gene

Phenotypes From GWAS Catalog for G6PC Gene

Gene Ontology (GO) - Molecular Function for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004346 glucose-6-phosphatase activity IBA,IDA 8211187
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
GO:0016787 hydrolase activity IEA --
GO:0042301 phosphate ion binding IMP 12093795
genes like me logo Genes that share ontologies with G6PC: view
genes like me logo Genes that share phenotypes with G6PC: view

Human Phenotype Ontology for G6PC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC Gene

MGI Knock Outs for G6PC:

Animal Model Products

CRISPR Products

miRNA for G6PC Gene

miRTarBase miRNAs that target G6PC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC

No data available for Transcription Factor Targets and HOMER Transcription for G6PC Gene

Localization for G6PC Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for G6PC gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
mitochondrion 3
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
lysosome 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 10318794
GO:0030176 integral component of endoplasmic reticulum membrane TAS 10318794
genes like me logo Genes that share ontologies with G6PC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for G6PC Gene

Pathways & Interactions for G6PC Gene

genes like me logo Genes that share pathways with G6PC: view

UniProtKB/Swiss-Prot P35575-G6PC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for G6PC Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IEA,TAS 8211187
GO:0005980 glycogen catabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006641 triglyceride metabolic process IEA --
GO:0006796 phosphate-containing compound metabolic process IEA --
genes like me logo Genes that share ontologies with G6PC: view

Drugs & Compounds for G6PC Gene

(48) Drugs for G6PC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Investigational, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(36) Additional Compounds for G6PC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with G6PC: view

Transcripts for G6PC Gene

mRNA/cDNA for G6PC Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC Gene

No ASD Table

Relevant External Links for G6PC Gene

GeneLoc Exon Structure for
G6PC

Expression for G6PC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for G6PC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PC Gene

This gene is overexpressed in Liver (x47.6) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for G6PC Gene

This gene is overexpressed in Liver (45.5) and Gallbladder (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for G6PC Gene



Protein tissue co-expression partners for G6PC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for G6PC

SOURCE GeneReport for Unigene cluster for G6PC Gene:

Hs.212293

Evidence on tissue expression from TISSUES for G6PC Gene

  • Liver(4.8)
  • Kidney(3.8)
  • Pancreas(3)
  • Muscle(3)
  • Intestine(3)
  • Blood(2.8)
  • Nervous system(2.6)
  • Adrenal gland(2.6)
  • Thyroid gland(2.6)
  • Heart(2.5)
  • Stomach(2.5)
  • Skin(2.4)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with G6PC: view

No data available for mRNA Expression by UniProt/SwissProt for G6PC Gene

Orthologs for G6PC Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia G6PC 30 31
  • 98.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia G6PC 30 31
  • 89.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia G6PC 30 31
  • 88.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia G6pc 30 17 31
  • 84.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia G6pc 30
  • 84.31 (n)
Chicken
(Gallus gallus)
Aves LOC100857298 30
  • 71.52 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia g6pc2 30
  • 69.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii g6pca.2 30 31
  • 66.57 (n)
OneToMany
g6pca.1 31
  • 54 (a)
OneToMany
g6pcb 31
  • 53 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG15400 31
  • 19 (a)
OneToMany
Species where no ortholog for G6PC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for G6PC Gene

ENSEMBL:
Gene Tree for G6PC (if available)
TreeFam:
Gene Tree for G6PC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for G6PC: view image

Paralogs for G6PC Gene

Paralogs for G6PC Gene

(2) SIMAP similar genes for G6PC Gene using alignment to 2 proteins:

  • G6PC_HUMAN
  • K7ELS6_HUMAN
genes like me logo Genes that share paralogs with G6PC: view

Variants for G6PC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for G6PC Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
639032 Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,907,630(+) T/C SPLICE_DONOR_VARIANT
640818 Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,909,374(+) T/C MISSENSE_VARIANT,SYNONYMOUS_VARIANT
643470 Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,903,959(+) TG/T FRAMESHIFT_VARIANT
651731 Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,904,023(+) C/T MISSENSE_VARIANT
656705 Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,907,629(+) G/C SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for G6PC Gene

Structural Variations from Database of Genomic Variants (DGV) for G6PC Gene

Variant ID Type Subtype PubMed ID
esv2763170 CNV loss 21179565
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv457742 CNV loss 19166990
nsv483009 CNV gain 15286789
nsv575052 CNV loss 21841781

Variation tolerance for G6PC Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for G6PC Gene

Human Gene Mutation Database (HGMD)
G6PC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
G6PC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC Gene

Disorders for G6PC Gene

MalaCards: The human disease database

(27) MalaCards diseases for G6PC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ia
  • gsd1a
hypoglycemia
  • hypoglycaemia
glycogen storage disease
  • gsd
hyperuricemia
  • blood urate raized
hepatocellular adenoma
  • adenoma hepatocellular
- elite association - COSMIC cancer census association via MalaCards
Search G6PC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PC_HUMAN
  • Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269 PubMed:10070617, ECO:0000269 PubMed:10094563, ECO:0000269 PubMed:10447271, ECO:0000269 PubMed:10612834, ECO:0000269 PubMed:10738005, ECO:0000269 PubMed:10748407, ECO:0000269 PubMed:10874313, ECO:0000269 PubMed:10960498, ECO:0000269 PubMed:11058903, ECO:0000269 PubMed:11058910, ECO:0000269 PubMed:12373566, ECO:0000269 PubMed:15151508, ECO:0000269 PubMed:15316959, ECO:0000269 PubMed:15542400, ECO:0000269 PubMed:7573034, ECO:0000269 PubMed:7623438, ECO:0000269 PubMed:7655466, ECO:0000269 PubMed:8182131, ECO:0000269 PubMed:8733042, ECO:0000269 PubMed:9001800, ECO:0000269 PubMed:9332655, ECO:0000269 PubMed:9506659, ECO:0000269 PubMed:9700612, ECO:0000269 PubMed:9700613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for G6PC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with G6PC: view

No data available for Genatlas for G6PC Gene

Publications for G6PC Gene

  1. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PMID: 15316959) Ekstein J … Risch N (American journal of medical genetics. Part A 2004) 3 4 41
  2. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID: 12373566) Matern D … Chen YT (European journal of pediatrics 2002) 3 4 23
  3. The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PMID: 12093795) Ghosh A … Chou JY (The Journal of biological chemistry 2002) 3 4 23
  4. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (PMID: 10960498) Weston BW … Chen YT (Pediatric research 2000) 3 4 23
  5. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. (PMID: 10748407) Akanuma J … Narisawa K (American journal of medical genetics 2000) 3 4 23

Products for G6PC Gene

Sources for G6PC Gene