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PYGL Gene(Protein Coding)

Glycogen Phosphorylase L

GCID:
GC14M050857
GIFtS:
55
Genes Participants
UDN Logo

Aliases for PYGL Gene

Aliases for PYGL Gene

  • Glycogen Phosphorylase L 2 3 5
  • Glycogen Phosphorylase, Liver Form 2 3 4
  • EC 2.4.1.1 4 56
  • Glycogen Storage Disease Type VI 2
  • Phosphorylase, Glycogen, Liver 3
  • Phosphorylase, Glycogen; Liver 2
  • Hers Disease 2
  • GSD6 3

External Ids for PYGL Gene

Previous GeneCards Identifiers for PYGL Gene

  • GC14M048693
  • GC14M045167
  • GC14M049361
  • GC14M050441
  • GC14M051371
  • GC14M031497
  • GC14M051324

Summaries for PYGL Gene

Entrez Gene Summary for PYGL Gene

  • This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

GeneCards Summary for PYGL Gene

PYGL (Glycogen Phosphorylase L) is a Protein Coding gene. Diseases associated with PYGL include Glycogen Storage Disease Vi and Glycogen Storage Disease. Among its related pathways are Galactose metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and drug binding. An important paralog of this gene is PYGB.

UniProtKB/Swiss-Prot for PYGL Gene

  • Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.

Additional gene information for PYGL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYGL Gene

Genomics for PYGL Gene

GeneHancer (GH) Regulatory Elements for PYGL Gene

Promoters and enhancers for PYGL 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
GH14J050943 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 615.8 +0.4 429 3 HDGF ZFX ELF3 POLR2A ZNF121 ZSCAN21 MAFK YY1 SP1 PPARG PYGL LOC105370492 NIN MRPL57P9
GH14J050893 Promoter 0.5 Ensembl 55.6 +49.6 49629 3 PYGL NIN ENSG00000258745 ABHD12B
GH14J050892 Enhancer 0.8 ENCODE 34.2 +52.1 52092 0.2 ELF3 CEBPG PPARG SP5 CEBPA GATAD2A RXRB RCOR2 SOX13 TCF7 PYGL NIN ENSG00000258745 ABHD12B
GH14J050896 Enhancer 0.4 ENCODE 54 +46.6 46640 2.1 NANOG POLR2A POU5F1 PYGL ABHD12B NIN ENSG00000258745
GH14J050925 Enhancer 0.8 ENCODE 25.5 +17.1 17115 3.7 CBFA2T2 CEBPG BACH1 TRIM24 ZNF639 SMARCA4 DPF2 IKZF1 CEBPA GTF2E2 PYGL ABHD12B NIN MRPL57P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYGL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PYGL gene promoter:
  • C/EBPalpha
  • E47
  • En-1
  • Hlf
  • Lmo2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Zic3
  • ZID

Genomic Locations for PYGL Gene

Genomic Locations for PYGL Gene
chr14:50,857,891-50,944,530
(GRCh38/hg38)
Size:
86,640 bases
Orientation:
Minus strand
chr14:51,324,609-51,411,454
(GRCh37/hg19)
Size:
86,846 bases
Orientation:
Minus strand

Genomic View for PYGL Gene

Genes around PYGL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PYGL Gene

Proteins for PYGL Gene

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

    Protein Symbol:
    P06737-PYGL_HUMAN
    Recommended name:
    Glycogen phosphorylase, liver form
    Protein Accession:
    P06737
    Secondary Accessions:
    • A6NDQ4
    • B4DUB7
    • F5H816
    • O60567
    • O60752
    • O60913
    • Q501V9
    • Q641R5
    • Q96G82

    Protein attributes for PYGL Gene

    Size:
    847 amino acids
    Molecular mass:
    97149 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Interacts with PPP1R3B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PYGL Gene

    Alternative splice isoforms for PYGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYGL Gene

Protein Expression for PYGL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PYGL Gene

P06737:
  • TLVKDRNV
  • DTQVVLA
  • NTMINLG
  • IPELMRI
  • EEADDWLR
  • GKELRLKQ
  • VAIQLNDTHP
  • APNDFNL
  • RWIRTQQHYY
  • NNTVNTMRLWSA
  • HDRFKVFADYE
  • HMAKMII
  • TNGITPRRW
  • KRINMAHLCI
  • PEALERW
  • HAVNGVA
  • YDTPVPGY
  • LPRHLEIIY
  • DLSEQIS
  • VNGVAKIHSDI
  • LGNGGLGRLA
  • YIQAVLDRNLAENI
  • KASKFGS
  • NISRVLYP
  • VKINPSSMFD
  • LDSMATL
  • PLTDQEKR
  • NKTNGIT
  • FSSDRTI
  • DVAALDKKGYEAKEYYEALPELKL
  • EASGTGNMK
  • RDYYFALA
  • DVDRLRRMS
  • KRIHEYKRQL
  • NGALTIGT
  • ELRLKQEYF
  • DFNVGDYI
  • NLGLQNACDEAIYQLGLD
  • IFLENYRVSLAEKVIPA

Post-translational modifications for PYGL Gene

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Ubiquitination at isoforms=2804, posLast=364364, isoforms=2192, isoforms=2811, posLast=395395, and isoforms=2170
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PYGL Gene

Gene Families for PYGL Gene

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

Protein Domains for PYGL Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PYGL Gene

GenScript: Design optimal peptide antigens:
  • Phosphorylase (E9PK47_HUMAN)
  • Phosphorylase (F5H816_HUMAN)
  • Glycogen phosphorylase, liver form (PYGL_HUMAN)
  • PYGL protein (Q6P1L4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06737

UniProtKB/Swiss-Prot:

PYGL_HUMAN :
  • Belongs to the glycogen phosphorylase family.
Family:
  • Belongs to the glycogen phosphorylase family.
genes like me logo Genes that share domains with PYGL: view

Function for PYGL Gene

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Molecular function for PYGL Gene

UniProtKB/Swiss-Prot Function:
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate; Xref=Rhea:RHEA:41732, Rhea:RHEA-COMP:9584, Rhea:RHEA-COMP:9586, ChEBI:CHEBI:15444, ChEBI:CHEBI:43474, ChEBI:CHEBI:58601; EC=2.4.1.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.
GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,liver

Enzyme Numbers (IUBMB) for PYGL Gene

Phenotypes From GWAS Catalog for PYGL Gene

Gene Ontology (GO) - Molecular Function for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002060 purine nucleobase binding IDA 12204691
GO:0003824 catalytic activity IEA --
GO:0004645 phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IDA 10949035
genes like me logo Genes that share ontologies with PYGL: view
genes like me logo Genes that share phenotypes with PYGL: view

Human Phenotype Ontology for PYGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PYGL

CRISPR Products

miRNA for PYGL Gene

miRTarBase miRNAs that target PYGL

Clone Products

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  • Addgene plasmids for PYGL

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PYGL Gene

Localization for PYGL Gene

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 PYGL gene
Compartment Confidence
cytosol 5
extracellular 4
plasma membrane 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0034774 secretory granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PYGL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PYGL Gene

Pathways & Interactions for PYGL Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with PYGL: view

SIGNOR curated interactions for PYGL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IMP 10980448
GO:0005980 glycogen catabolic process TAS --
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PYGL: view

Drugs & Compounds for PYGL Gene

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(24) Drugs for PYGL Gene - From: DrugBank, PharmGKB, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra Target, activator 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 22
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2623
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1736
Amylose Approved, Investigational Pharma 0

(6) Additional Compounds for PYGL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glucose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
 2255-14-3, 59-56-3
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2
purine
  • Purine base
  • 1H-Purine
  • 6H-imidazo[4,5-D]Pyrimidine
  • 7-Methyltheophylline
  • 7H-imidazo(4,5-D)Pyrimidine
 120-73-0
genes like me logo Genes that share compounds with PYGL: view

Transcripts for PYGL Gene

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  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for PYGL Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(244) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PYGL Gene

Phosphorylase, glycogen, liver:
Representative Sequences:

CRISPR Products

Clone Products

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  • * PYGL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PYGL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PYGL

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

No ASD Table

Relevant External Links for PYGL Gene

GeneLoc Exon Structure for
PYGL
ECgene alternative splicing isoforms for
PYGL

Expression for PYGL Gene

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GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

mRNA expression in normal human tissues for PYGL Gene
mRNA expression by BioGPS for PYGL GenemRNA expression by GTEx for PYGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x23.3).

Protein differential expression in normal tissues from HIPED for PYGL Gene

This gene is overexpressed in Liver, secretome (25.0) and Retina (9.6).

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



Protein tissue co-expression partners for PYGL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PYGL Gene:

PYGL

SOURCE GeneReport for Unigene cluster for PYGL Gene:

Hs.282417

Evidence on tissue expression from TISSUES for PYGL Gene

  • Liver(4.6)
  • Blood(4.5)
  • Nervous system(4.4)
  • Skin(4.3)
  • Heart(3.1)
  • Bone marrow(2.3)
  • Gall bladder(2.2)
  • Muscle(2.2)
  • Intestine(2.1)
  • Adrenal gland(2)
  • Eye(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PYGL: view

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

Orthologs for PYGL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYGL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PYGL 35 34
  • 99.65 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PYGL 35 34
  • 91.61 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PYGL 35 34
  • 90.86 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PYGL 35
  • 90 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PYGL 35
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pygl 17 35 34
  • 88.78 (n)
rat
(Rattus norvegicus)
 Mammalia Pygl 34
  • 88.51 (n)
chicken
(Gallus gallus)
 Aves PYGL 35 34
  • 79.68 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PYGL 35
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pygl 34
  • 77.65 (n)
zebrafish
(Danio rerio)
 Actinopterygii pygl 35
  • 65 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta GlyP 35 36
  • 66 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea T22F3.3 35
  • 60 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F10065g 34
  • 56.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GPH1 35 34
  • 55.7 (n)
 OneToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR547W 34
  • 55.67 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT3G29320 34
  • 54.82 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.321 34
soybean
(Glycine max)
 eudicotyledons Gma.7010 34
corn
(Zea mays)
 Liliopsida Zm.13152 34
rice
(Oryza sativa)
 Liliopsida Os.11216 34
wheat
(Triticum aestivum)
 Liliopsida Ta.1279 34
bread mold
(Neurospora crassa)
 Ascomycetes NCU07027 34
  • 56.47 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 56 (a)
 OneToMany
Species where no ortholog for PYGL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PYGL Gene

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

Paralogs for PYGL Gene

Paralogs for PYGL Gene

(2) SIMAP similar genes for PYGL Gene using alignment to 3 proteins:

  • PYGL_HUMAN
  • E9PK47_HUMAN
  • Q6P1L4_HUMAN
genes like me logo Genes that share paralogs with PYGL: view

Variants for PYGL Gene

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Sequence variations from dbSNP and Humsavar for PYGL Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1042266 benign, not specified, Glycogen storage disease, type VI, not provided 50,905,385(-) C/A/G 3_prime_UTR_variant
rs11356035 benign, not specified, Glycogen storage disease, type VI, not provided 50,911,873(-) TTT/TT intron_variant, splice_acceptor_variant
rs113993972 pathogenic, uncertain-significance, Glycogen storage disease, type VI, not specified 50,944,366(-) T/G coding_sequence_variant, missense_variant
rs113993973 pathogenic, Glycogen storage disease, type VI 50,937,801(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs113993974 pathogenic, Glycogen storage disease, type VI 50,924,101(-) C/G splice_acceptor_variant

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

Variant ID Type Subtype PubMed ID
dgv1083n106 CNV deletion 24896259
dgv637e212 CNV loss 25503493
esv2748710 CNV deletion 23290073
esv3245718 CNV deletion 24192839
esv33577 CNV gain 17666407
esv3551546 CNV deletion 23714750
esv3581193 CNV loss 25503493
esv3634494 CNV loss 21293372
esv3892542 CNV loss 25118596
esv4830 CNV loss 18987735
esv7846 CNV loss 19470904
nsv820614 CNV deletion 20802225
nsv826950 CNV gain+loss 20364138
nsv826951 CNV gain 20364138
nsv832794 CNV gain 17160897
nsv952837 CNV duplication 24416366

Variation tolerance for PYGL Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYGL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PYGL Gene

MalaCards: The human disease database

(4) MalaCards diseases for PYGL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PYGL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYGL_HUMAN
  • Glycogen storage disease 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269 PubMed:9529348}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PYGL

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

No data available for Genatlas for PYGL Gene

Publications for PYGL Gene

  1. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL). (PMID: 15223230) Tomihira M … Nunoi K (Diabetes research and clinical practice 2004) 3 23 45 58
  2. Structure-activity analysis of the purine binding site of human liver glycogen phosphorylase. (PMID: 12204691) Ekstrom JL … Rath VL (Chemistry & biology 2002) 3 4 23 58
  3. Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core. (PMID: 10949035) Rath VL … Pandit J (Molecular cell 2000) 3 4 23 58
  4. Human liver glycogen phosphorylase inhibitors bind at a new allosteric site. (PMID: 10980448) Rath VL … Hoover DJ (Chemistry & biology 2000) 3 4 23 58
  5. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (PMID: 9536091) Chang S … Biesecker LG (Human molecular genetics 1998) 3 4 23 58

ExternalLinks

View latest publications for PYGL gene in Mastermind

Products for PYGL Gene

  • Addgene plasmids for PYGL

Sources for PYGL Gene

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