PYGM Gene

HGNC Family	Glycosyltransferases
Name	phosphorylase, glycogen, muscle
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPYGM encodes the muscle‐specific isoform of glycogen phosphorylase, a critical enzyme that catalyzes the first step in glycogenolysis by breaking down glycogen into glucose‐1‐phosphate. This reaction is essential for providing the readily available energy needed during muscle contraction, and its deficiency disrupts energy metabolism in skeletal muscle. Such loss of function underlies McArdle disease—a metabolic myopathy characterized by exercise intolerance, muscle cramps, and even myoglobinuria in severe cases—as demonstrated in several clinical studies and mutation analyses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its classical role in muscle energy metabolism, PYGM has been increasingly recognized in non‐muscle contexts. Notably, PYGM is expressed in tissues such as the brain and lymphoid cells, where recent findings have revealed that it interacts directly with the active form of Rac1 GTPase. This interaction, mediated through a specific domain of PYGM, contributes to IL‑2–dependent signaling pathways that promote T cell activation and proliferation. Such data suggest that PYGM’s function extends into immune regulation and possibly other signaling cascades."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nExperimental models further underscore the central role of PYGM in maintaining normal muscle physiology. For instance, knockdown studies using zebrafish have demonstrated that reduced PYGM levels result in excessive glycogen accumulation and disrupted muscle fiber organization—findings that recapitulate the pathological features of McArdle disease. Moreover, assessment of PYGM expression in peripheral blood cells (such as T lymphocytes) offers a promising, minimally invasive diagnostic tool for detecting myophosphorylase deficiency, thereby broadening both the developmental and clinical implications of PYGM function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Gisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al. "}, {"type": "b", "children": [{"type": "t", "text": "McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22806"}], "href": "https://doi.org/10.1002/humu.22806"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25914343"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25914343"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Claudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "McArdle disease: the mutation spectrum of PYGM in a large Italian cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9434"}], "href": "https://doi.org/10.1002/humu.9434"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16786513"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16786513"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "John Vissing, Morten Duno, Marianne Schwartz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awp065"}], "href": "https://doi.org/10.1093/brain/awp065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19433441"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19433441"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A L Andreu, G Nogales-Gadea, D Cassandrini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "McArdle disease: molecular genetic update."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Myol (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17915571"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17915571"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Irene Vieitez, Susana Teijeira, Jose M Fernandez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2011.07.002"}], "href": "https://doi.org/10.1016/j.nmd.2011.07.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21802952"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21802952"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "M Deschauer, A Morgenroth, P R Joshi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-006-0447-x"}], "href": "https://doi.org/10.1007/s00415-006-0447-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17404776"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17404776"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Amanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing detects "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PYGM"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " variants in two adults with McArdle disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cold Spring Harb Mol Case Stud (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/mcs.a006173"}], "href": "https://doi.org/10.1101/mcs.a006173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35022222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35022222"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Marta Migocka-Patrzałek, Magdalena Elias "}, {"type": "b", "children": [{"type": "t", "text": "Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells10040883"}], "href": "https://doi.org/10.3390/cells10040883"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33924466"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33924466"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Onetsine Arrizabalaga, Hadriano M Lacerda, Ana M Zubiaga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.297804"}], "href": "https://doi.org/10.1074/jbc.M111.297804"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22337875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22337875"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Francisco Llavero, Bakarne Urzelai, Nerea Osinalde, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Guanine nucleotide exchange factor αPIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.608414"}], "href": "https://doi.org/10.1074/jbc.M114.608414"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25694429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25694429"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Marta Migocka-Patrzałek, Anna Lewicka, Magdalena Elias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2019.105658"}], "href": "https://doi.org/10.1016/j.biocel.2019.105658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31747538"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31747538"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Noemí de Luna, Astrid Brull, Alejandro Lucia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2014.08.002"}], "href": "https://doi.org/10.1016/j.nmd.2014.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25240406"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25240406"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Inés García-Consuegra, Sara Asensio-Peña, Alfonsina Ballester-Lopez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Missense mutations have unexpected consequences: The McArdle disease paradigm."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23591"}], "href": "https://doi.org/10.1002/humu.23591"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30011114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30011114"}]}]}]}
Proteins	PYGM_HUMAN
NCBI Gene ID	5837
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PYGM has 6,064 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 136 datasets.

Click the + buttons to view associations for PYGM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PYGM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYGM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYGM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PYGM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PYGM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PYGM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYGM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PYGM gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PYGM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PYGM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PYGM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PYGM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PYGM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PYGM gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PYGM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PYGM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PYGM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PYGM gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PYGM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PYGM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PYGM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PYGM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PYGM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PYGM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PYGM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PYGM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PYGM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PYGM gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PYGM gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PYGM protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PYGM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PYGM gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PYGM gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PYGM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PYGM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PYGM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PYGM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PYGM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PYGM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for PYGM protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PYGM gene from the ENCODE Histone Modification Site Profiles dataset.