PYGM (glycogen phosphorylase, muscle associated)

2016-10-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
GSD5

Other Information

Locus ID:

NCBI: 5837
MIM: 608455
HGNC: 9726
Ensembl: ENSG00000068976

Variants:

dbSNP: 5837
ClinVar: 5837
TCGA: ENSG00000068976
COSMIC: PYGM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068976ENST00000164139P11217
ENSG00000068976ENST00000377432P11217

Expression (GTEx)

0
500
1000
1500
2000
2500

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Insulin signaling pathwayKEGGko04910
Starch and sucrose metabolismKEGGhsa00500
Insulin signaling pathwayKEGGhsa04910
Metabolic pathwaysKEGGhsa01100
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
166711042006Genetic risk factors associated with lipid-lowering drug-induced myopathies.45
179945532008Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.11
223378752012Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation.11
259143432015McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.10
126400062003Reflex sympathetic activation during static exercise is severely impaired in patients with myophosphorylase deficiency.9
146621632003cDNA microarray analysis of gene expression profiles in human placenta: up-regulation of the transcript encoding muscle subunit of glycogen phosphorylase in preeclampsia.9
179155712007McArdle disease: molecular genetic update.8
167865132006McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.7
176302102007Genotype modulators of clinical severity in McArdle disease.7
194334412009Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.7

Citation

Dessen P

PYGM (glycogen phosphorylase, muscle associated)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56428/pygm