PYGM (glycogen phosphorylase, muscle associated)

Gene Basic Information

Gene Basic Information

symbol
PYGM
locus group
protein-coding gene
location
11q13.1
gene_family
Phosphorylases, glycogen
alias symbol
GSD5
alias name
McArdle syndrome|glycogen storage …
entrez id
5837
ensembl gene id
ENSG00000068976
ucsc gene id
uc001oax.5
refseq accession
NM_005609
hgnc_id
HGNC:9726
approved reserved
2001-06-22

Chromosome Location

Chromosome Location

11q13.1

Gene Summary

Gene Summary

ChineseEnglish

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

OMIM entry for PYGM     Wikipedia entry for PYGM

Gene Sequence

Gene Sequence

Nucleotide sequence of PYGM:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MSRPLSDQEK RKQISVRGLA GVENVTELKK NFNRHLHFTL
41VKDRNVATPR DYYFALAHTV RDHLVGRWIR TQQHYYEKDP
81 KRIYYLSLE FYMGRTLQNT MVNLALENAC DEATYQLGLD
121MEELEEIEED AGLGNGGLGR LAACFLDSMA TLGLAAYGYG
161I RYEFGIFN QKISGGWQME EADDWLRYGN PWEKARPEFT
201LPVHFYGHVE HTSQGAKWVD TQVVLAMPYD TPVPGYRNNV
241VN TMRLWSA KAPNDFNLKD FNVGGYIQAV LDRNLAENIS
281RVLYPNDNFF EGKELRLKQE YFVVAATLQD IIRRFKSSKF
321GCR DPVRTN FDAFPDKVAI QLNDTHPSLA IPELMRILVD
361LERMDWDKAW DVTVRTCAYT NHTVLPEALE RWPVHLLETL
401LPRH LQIIY EINQRFLNRV AAAFPGDVDR LRRMSLVEEG
441AVKRINMAHL CIAGSHAVNG VARIHSEILK KTIFKDFYEL
481EPHKF QNKT NGITPRRWLV LCNPGLAEVI AERIGEDFIS
521DLDQLRKLLS FVDDEAFIRD VAKVKQENKL KFAAYLEREY
561KVHINP NSL FDIQVKRIHE YKRQLLNCLH VITLYNRIKR
601EPNKFFVPRT VMIGGKAAPG YHMAKMIIRL VTAIGDVVNH
641DPAVGDR LR VIFLENYRVS LAEKVIPAAD LSEQISTAGT
681EASGTGNMKF MLNGALTIGT MDGANVEMAE EAGEENFFIF
721GMRVEDVD K LDQRGYNAQE YYDRIPELRQ VIEQLSSGFF
761SPKQPDLFKD IVNMLMHHDR FKVFADYEDY IKCQEKVSAL
801YKNPREWTR MVIRNIATSG KFSSDRTIAQ YAREIWGVEP
841SRQRLPAPDE AI
Structure predicted by AlphaFold DB(UniProt: P11217). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of PYGM:           Showing partial SNPs
rs474006       rs477549       rs483962       rs489192       rs490980       rs506354       rs532747       rs547066       rs550545       rs555974       rs565688       rs566653       rs569200       rs569602       rs576632       rs589691       rs592521      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TACTACTTTGCTCTGGCCC
59
ACAGGTAGTAGATCCTCTTGG
58
TGAGCAGTGGCTTCTTCTC
60
GAAGACTTTAAACCGGTCATGG
60
TGATGAGGATCCTGGTGGA
60
GTCCTCACTGTCACATCCC
60
ACTCTTCGACATCCAGGTG
59
CTCTTGATGCGGTTGTACAG
59
GCCTTCCCAGATAAGGTGG
60
CCACCAGGATCCTCATCAG
59
ATGATTGGAGGGAAGGCTG
60
TCATGGTTGACCACATCCC
60
GATGAGGATCCTGGTGGAC
59
GGTCCTCACTGTCACATCC
60
TGAGCAGTGGCTTCTTCTC
60
AGACTTTAAACCGGTCATGGT
60
CTACTACTTTGCTCTGGCC
58
AGGTAGTAGATCCTCTTGGG
57
TGAGCAGTGGCTTCTTCTC
60
AGACTTTAAACCGGTCATGGT
60

Gene Ontology

Subcellular localization of PYGM (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for PYGM:

GO ID
Protein
Source DB
GO:0001666
P11217 (UniProtKB)
IEA
GO:0005515
P11217 (UniProtKB)
IPI
GO:0005515
P11217 (UniProtKB)
IPI
GO:0005737
P11217 (UniProtKB)
IBA
GO:0005829
P11217 (UniProtKB)
TAS
GO:0005829
P11217 (UniProtKB)
TAS
GO:0005829
P11217 (UniProtKB)
TAS
GO:0005977
P11217 (UniProtKB)
TAS
GO:0005980
P11217 (UniProtKB)
IBA
GO:0005980
P11217 (UniProtKB)
TAS
GO:0006874
P11217 (UniProtKB)
IEA
GO:0008144
P11217 (UniProtKB)
IEA
GO:0008184
P11217 (UniProtKB)
IEA
GO:0008184
P11217 (UniProtKB)
IEA
GO:0016208
P11217 (UniProtKB)
IEA
GO:0016529
P11217 (UniProtKB)
IEA
GO:0030170
P11217 (UniProtKB)
IBA
GO:0030246
P11217 (UniProtKB)
IEA
GO:0051591
P11217 (UniProtKB)
IEA
GO:0070062
P11217 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating PYGM:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Glycogen Storage Disease Type V 0.596853589 38 27 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Myopathy 0.12 1 0 CTD_human
Myocardial Ischemia 0.08 1 0 RGD
Cardiomegaly 0.08 1 0 RGD
Paralysed 0.08 1 0 RGD
Cholestasis 0.08 1 0 RGD
Diabetes Mellitus, Experimental 0.08 1 0 RGD
Glycogen Storage Disease 0.003267234 3 0 BeFree_LHGDN
Pre-Eclampsia 0.00272435 1 0 LHGDN
Sepsis 0.00272435 1 0 LHGDN

Related Publications

Related Publications

The Impact of Muscle Fatigue on McArdle Disease: A Case Report.
Valente L, Santos G, Velho R, Santos JF, Duarte O, Correia L Cureus 2026-02-00
Glutathione S-transferase Mu 3 Mitigates Alcohol-induced Hepatic Lipid Dysregulation via PYGM Suppression.
Xia R, Wang L, Zhao CC, Zhao YX, Lv JJ, Yang RF, Zhang YY, Lei Y, Wei W, Sun YY Biochem Pharmacol IF: 6.5 2026-06-00
Chronic Di(2-ethylhexyl) phthalate and diisononyl phthalate exposure impairs uterine endometrial glycogen metabolism in mice.
Zarei P, Raneri I, Thapa G, Andrus A, Ibrahim S, Laws MJ, Flaws JA, Nowak RA, Dean M Reprod Toxicol IF: 3.4 2026-08-25
A Genome-Wide Association Study Identifies Candidate SNPs and Genes Associated with Body Weight in the Northern Snakehead (Channa argus) Using a 50K SNP Array.
Liu H, Li X, Xie W, Wang Y, Ou M, Luo Q, Fei S, Zhang X, Chen W, Zhu X, Chen K, Zhao J Animals (Basel) IF: 3.2 2026-08-08
Whole-Genome Resequencing-Based Selection-Signal and Association Analyses Prioritize Candidate Genes and Haplotypes for PRRS Resistance-Related Traits in Pigs.
Lian MJ, Wang JQ, Xu AS, Cao Z, Zhou SY, Yuan HM, Xie ZC, Ouyang HS, Pang DX, Lv DM Animals (Basel) IF: 3.2 2026-07-17
When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study.
Martins AP, Martinez ARM, Nucci A, França Júnior MC Arq Neuropsiquiatr IF: 1.9 2026-08-00
Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression.
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R Cells 2026-01-20
Astrocytic PYGM attenuates tau pathology by promoting lactate-mediated neuroprotection.
Cao J, Meng J, Chen Y, Tang Z, Wang Y, Li K, Zhang X, Luo H, Li H, Wang Z, Zhang YW Alzheimers Dement IF: 12.8 2026-02-00
Muscle glycogen metabolism is rapidly dysregulated in critical illness, which may have implications for muscle ATP resynthesis and ICU-acquired weakness.
Jameson TSO, Wall BT, Urban T, Krajčová A, Bakalář B, Fric M, Jiroutková K, Džupa V, Gojda J, Porter C, Miznerová B, Duška F, Stephens FB Am J Physiol Endocrinol Metab IF: 4.2 2026-06-01
Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.
Porras-Hurtado GL, Mejía-García A, Sinisterra-Diaz SE, Velandia-Piedrahita CA, Geles J, Pachajoa H, Bello S, Gálvez JM Am J Med Genet A IF: 1.7 2026-05-03

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