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 G6PC1 Gene

Aliases for G6PC1 Gene

  • Glucose-6-Phosphatase Catalytic Subunit 1 2 3
  • Glucose-6-Phosphatase Catalytic Subunit 2 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
  • GSD1a 2 3
  • G6PC 3 5
  • 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

External Ids for G6PC1 Gene

Previous HGNC Symbols for G6PC1 Gene

  • G6PT
  • G6PC

Summaries for G6PC1 Gene

Entrez Gene Summary for G6PC1 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 G6PC1 Gene

G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with G6PC1 include Glycogen Storage Disease Ia and Hypoglycemia. Among its related pathways are DNA Damage Response (only ATM dependent) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is G6PC2.

UniProtKB/Swiss-Prot Summary for G6PC1 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 G6PC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for G6PC1 Gene

Genomics for G6PC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for G6PC1 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 250.7 +1.3 1305 3.8 CEBPA KDM6A THAP11 FOXA2 SMAD4 SAP130 RXRA MIER3 ZSCAN9 ZBTB33 G6PC1 DHX58 NAGLU lnc-G6PC-1 AARSD1
GH17J042878 Enhancer 1 Ensembl ENCODE 13.2 -22.3 -22296 1.8 MXD4 CEBPA BHLHE40 HOMEZ KDM6A THAP11 ZNF511 SMAD4 SAP130 RXRA lnc-AOC3-3 LINC00671 G6PC1 AOC3 AOC2 RNU6-287P
GH17J042928 Enhancer 1 ENCODE 13.3 +28.3 28271 1.8 TBP MXD4 CEBPA MNT IKZF1 ZFP64 CTCF HOMEZ THAP11 ARNT G6PC1 LINC00671 RNU6-287P AOC3 AOC2 CNTD1 COA3 VPS25 RAMP2-AS1 HMGN2P15
GH17J042855 Enhancer 0.9 Ensembl dbSUPER 12 -45.3 -45296 1 CEBPA SAP130 RXRA ETV4 RARA BCL6 KAT7 CREM SOX5 HMG20A RNU6-287P LINC00671 G6PC1 AOC4P AOC3 HSALNG0116584 HSALNG0116585 lnc-AOC3-2 HSALNG0116583
GH17J042880 Enhancer 0.3 Ensembl 12.4 -21.1 -21096 0.2 RARA ATF2 lnc-AOC3-3 G6PC1 AOC3 AOC2 RNU6-287P LINC00671
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around G6PC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for G6PC1

Genomic Locations for G6PC1 Gene

Latest Assembly
chr17:42,900,797-42,914,438
(GRCh38/hg38)
Size:
13,642 bases
Orientation:
Plus strand

Previous Assembly
chr17:41,052,816-41,066,455
(GRCh37/hg19 by Entrez Gene)
Size:
13,640 bases
Orientation:
Plus strand

chr17:41,052,814-41,065,386
(GRCh37/hg19 by Ensembl)
Size:
12,573 bases
Orientation:
Plus strand

Genomic View for G6PC1 Gene

Genes around G6PC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC1 Gene

Proteins for G6PC1 Gene

  • Protein details for G6PC1 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 G6PC1 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 G6PC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PC1 Gene

Selected DME Specific Peptides for G6PC1 Gene

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

Post-translational modifications for G6PC1 Gene

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

Other Protein References for G6PC1 Gene

Domains & Families for G6PC1 Gene

Gene Families for G6PC1 Gene

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

Protein Domains for G6PC1 Gene

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

Suggested Antigen Peptide Sequences for G6PC1 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 G6PC1: view

Function for G6PC1 Gene

Molecular function for G6PC1 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;.

Enzyme Numbers (IUBMB) for G6PC1 Gene

Phenotypes From GWAS Catalog for G6PC1 Gene

Gene Ontology (GO) - Molecular Function for G6PC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004346 glucose-6-phosphatase activity IBA,IDA 8211187
GO:0005515 protein binding IPI 32814053
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 G6PC1: view
genes like me logo Genes that share phenotypes with G6PC1: view

Human Phenotype Ontology for G6PC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC1 Gene

MGI Knock Outs for G6PC1:

miRNA for G6PC1 Gene

miRTarBase miRNAs that target G6PC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC1

No data available for Transcription Factor Targets and HOMER Transcription for G6PC1 Gene

Localization for G6PC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC1 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 G6PC1 gene
Compartment Confidence
plasma membrane 4
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
lysosome 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for G6PC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
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 G6PC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for G6PC1 Gene

Pathways & Interactions for G6PC1 Gene

genes like me logo Genes that share pathways with G6PC1: view

UniProtKB/Swiss-Prot P35575-G6PC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for G6PC1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for G6PC1 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 G6PC1: view

Drugs & Compounds for G6PC1 Gene

(49) Drugs for G6PC1 Gene - From: HMDB and Novoseek

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

(34) Additional Compounds for G6PC1 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-Dextrose
492-62-6
genes like me logo Genes that share compounds with G6PC1: view

Transcripts for G6PC1 Gene

mRNA/cDNA for G6PC1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC1

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC1 Gene

No ASD Table

Relevant External Links for G6PC1 Gene

GeneLoc Exon Structure for
G6PC1

Expression for G6PC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for G6PC1

SOURCE GeneReport for Unigene cluster for G6PC1 Gene:

Hs.212293

Evidence on tissue expression from TISSUES for G6PC1 Gene

  • Liver(4.8)
  • Kidney(3.6)
  • Intestine(2.8)
  • Pancreas(2.8)
  • Muscle(2.7)
  • Blood(2.4)
  • Adrenal gland(2.4)
  • Thyroid gland(2.4)
  • Nervous system(2.4)
  • Stomach(2.3)
  • Heart(2.3)
  • Skin(2.2)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC1 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 G6PC1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for G6PC1 Gene

Orthologs for G6PC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC1 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 G6PC1 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 G6PC1 Gene

ENSEMBL:
Gene Tree for G6PC1 (if available)
TreeFam:
Gene Tree for G6PC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for G6PC1: view image

Paralogs for G6PC1 Gene

Paralogs for G6PC1 Gene

genes like me logo Genes that share paralogs with G6PC1: view

Variants for G6PC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for G6PC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
841886 Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,907,566(+) C/G
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
NONSENSE,INTRON
846527 Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,910,978(+) A/G
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
MISSENSE_VARIANT,THREE_PRIME_UTR
855275 Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not provided 42,901,104(+) G/C
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
MISSENSE
862241 Uncertain Significance: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,907,523(+) G/C
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
MISSENSE_VARIANT,INTRON
863144 Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 42,907,538(+) A/T
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for G6PC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for G6PC1 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 G6PC1 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 G6PC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
G6PC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC1 Gene

Disorders for G6PC1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for G6PC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
glycogen storage disease ia
  • gsd1a
hypoglycemia
  • hypoglycaemia
glycogen storage disease due to glucose-6-phosphatase deficiency
  • g6p deficiency
glycogen storage disease
  • glycogenoses
hyperuricemia
  • blood urate raized
- elite association - COSMIC cancer census association via MalaCards
Search G6PC1 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 variants affecting the gene represented in this entry.

Additional Disease Information for G6PC1

genes like me logo Genes that share disorders with G6PC1: view

No data available for Genatlas for G6PC1 Gene

Publications for G6PC1 Gene

  1. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PMID: 7573034) Lei KJ … Pan LY (American journal of human genetics 1995) 3 4 23 74
  2. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (PMID: 8211187) Lei KJ … Chou JY (Science (New York, N.Y.) 1993) 3 4 23 74
  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. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID: 12373566) Matern D … Chen YT (European journal of pediatrics 2002) 3 4 23
  5. 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

Products for G6PC1 Gene

Sources for G6PC1 Gene