Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5837
MIM: 608455
HGNC: 9726
Ensembl: ENSG00000068976
Variants:
dbSNP: 5837
ClinVar: 5837
TCGA: ENSG00000068976
COSMIC: PYGM
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068976 | ENST00000164139 | P11217 |
| ENSG00000068976 | ENST00000377432 | P11217 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35022222 | 2022 | Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. | 1 |
| 35022222 | 2022 | Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. | 1 |
| 33924466 | 2021 | Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease. | 23 |
| 33924466 | 2021 | Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease. | 23 |
| 31747538 | 2020 | The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology. | 10 |
| 32386344 | 2020 | A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. | 2 |
| 32735634 | 2020 | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. | 1 |
| 31747538 | 2020 | The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology. | 10 |
| 32386344 | 2020 | A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. | 2 |
| 32735634 | 2020 | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. | 1 |
| 31324732 | 2019 | Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. | 13 |
| 31324732 | 2019 | Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. | 13 |
| 28120463 | 2018 | Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. | 3 |
| 30011114 | 2018 | Missense mutations have unexpected consequences: The McArdle disease paradigm. | 8 |
| 28120463 | 2018 | Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. | 3 |
Citation
Dessen P
PYGM (glycogen phosphorylase, muscle associated)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56428/pygm-(glycogen-phosphorylase-muscle-associated)
