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Gene

PYGM

glycogen phosphorylase, muscle associated

Summary

Cytogenetic location
11q13.1
Coordinates
Chromosome 11: 64,746,398–64,759,974 (GRCh38)
Exons
20 exons across 13.6 kb
Protein
842 amino acids
Inheritance
Autosomal recessive
Also known as
GSD5
MANE Select transcript
ENST00000164139.4NM_005609.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • McArdle's disease

    • Glycogen Storage Disease VAutosomal recessive

      Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PYGM is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where PYGM sits. PYGM and 40 genes near it on chromosome 11, from 64,253,186 to 65,253,185.Chromosome 1111q13.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2564.4 Mb64.6 Mb64.8 Mb65 Mb65.2 MbPLCB3: 64,251,498–64,269,424, forward strandPLCB3BAD: 64,269,828–64,291,946, reverse strandBADGPR137: 64,270,062–64,290,690, forward strandKCNK4: 64,291,302–64,300,031, forward strandCATSPERZ: 64,300,338–64,304,770, forward strandESRRA: 64,305,080–64,317,859, forward strandTRMT112: 64,316,460–64,318,086, reverse strandTRMT112PRDX5: 64,317,977–64,321,827, forward strandPRDX5CCDC88B: 64,340,197–64,357,534, forward strandCCDC88BRPS6KA4: 64,359,134–64,372,215, forward strandRPS6KA4SLC22A11: 64,555,632–64,572,875, forward strandSLC22A11SLC22A12: 64,590,641–64,602,353, forward strandSLC22A12NRXN2: 64,606,174–64,723,202, reverse strandNRXN2RASGRP2: 64,726,905–64,745,456, reverse strandRASGRP2PYGM: 64,746,398–64,759,974, reverse strandPYGMSF1: 64,764,605–64,778,802, reverse strandSF1MAP4K2: 64,784,918–64,803,245, reverse strandMAP4K2MEN1: 64,803,500–64,811,294, reverse strandMEN1CDC42BPG: 64,823,051–64,844,735, reverse strandCDC42BPGEHD1: 64,851,642–64,888,372, reverse strandEHD1ATG2A: 64,894,531–64,917,249, reverse strandATG2APPP2R5B: 64,917,553–64,934,480, forward strandPPP2R5BGPHA2: 64,934,471–64,935,894, reverse strandGPHA2MAJIN: 64,937,517–64,972,113, reverse strandMAJINBATF2: 64,987,945–64,997,018, reverse strandBATF2ARL2: 65,013,735–65,024,328, forward strandARL2ARL2-SNX15: 65,014,182–65,040,570, forward strandARL2-SNX15SNX15: 65,027,404–65,040,578, forward strandSNX15SAC3D1: 65,040,897–65,047,320, forward strandNAALADL1: 65,044,818–65,058,558, reverse strandCDCA5: 65,066,299–65,084,164, reverse strandZFPL1: 65,084,210–65,088,409, forward strandZFPL1CATSPERH: 65,084,974–65,089,375, reverse strandVPS51: 65,089,324–65,111,862, forward strandVPS51TM7SF2: 65,111,845–65,116,677, forward strandTM7SF2ZNHIT2: 65,116,403–65,117,701, reverse strandFAU: 65,120,182–65,122,221, reverse strandSYVN1: 65,121,780–65,146,912, reverse strandMRPL49: 65,122,183–65,127,371, forward strandSPDYC: 65,166,137–65,173,380, forward strandSPDYCCAPN1: 65,180,566–65,212,006, forward strandCAPN1Diagram of PYGM: 20 exons on the reverse strand of chromosome 11Exon 20: 7 known disease-causing sitesExon 19: 6 known disease-causing sitesExon 18: 13 known disease-causing sitesExon 17: 19 known disease-causing sitesExon 16: 10 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 14: 19 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 11: 21 known disease-causing sitesExon 10: 16 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 1: 37 known disease-causing sitesExon 20: 64,746,398–64,746,808, 411 basesExon 19: 64,746,921–64,746,987, 67 basesExon 18: 64,747,224–64,747,358, 135 basesExon 17: 64,750,376–64,750,583, 208 basesExon 16: 64,751,325–64,751,466, 142 basesExon 15: 64,751,597–64,751,655, 59 basesExon 14: 64,751,924–64,752,071, 148 basesExon 13: 64,752,403–64,752,504, 102 basesExon 12: 64,753,073–64,753,187, 115 basesExon 11: 64,753,519–64,753,682, 164 basesExon 10: 64,753,879–64,754,025, 147 basesExon 9: 64,754,253–64,754,345, 93 basesExon 8: 64,754,693–64,754,836, 144 basesExon 7: 64,755,273–64,755,355, 83 basesExon 6: 64,755,447–64,755,558, 112 basesExon 5: 64,757,779–64,757,910, 132 basesExon 4: 64,758,246–64,758,349, 104 basesExon 3: 64,758,437–64,758,515, 79 basesExon 2: 64,758,603–64,758,704, 102 basesExon 1: 64,759,656–64,759,974, 319 bases201816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.9 kb of the gene's 13.6 kb; 2,529 of those bases code for the protein.

How a genome test reads PYGM

319

positions in PYGM where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 13.6 kb of PYGM, introns included, not only the 2.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PYGM gene: glycogen phosphorylase, muscle associated. Retrieved 16 October 2026, from https://dantelabs.com/genes/pygm

Vancouver

Dante Labs. PYGM gene: glycogen phosphorylase, muscle associated [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pygm

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